Cardiomyopathy, and Genu valgum

Diseases related with Cardiomyopathy and Genu valgum

In the following list you will find some of the most common rare diseases related to Cardiomyopathy and Genu valgum that can help you solving undiagnosed cases.


Top matches:

Medium match CONGENITAL MYOPATHY WITH EXCESS OF THIN FILAMENTS


Nemaline myopathy is a form of congenital myopathy characterized by abnormal thread- or rod-like structures in muscle fibers on histologic examination ('nema' is Greek for 'thread'). The clinical phenotype is highly variable, with differing age at onset and severity. Muscle weakness typically involves proximal muscles, with involvement of the facial, bulbar, and respiratory muscles (Ilkovski et al., 2001). Attempts at classification of nemaline myopathies into clinical subtypes have been complicated by the overlap of clinical features and a continuous phenotypic spectrum of disease (North et al., 1997; Wallgren-Pettersson et al., 1999; Ryan et al., 2001; Sanoudou and Beggs, 2001). In general, 2 clinical groups can be readily distinguished: 'typical' and 'severe.' Typical nemaline myopathy is the most common form, presenting as infantile hypotonia and muscle weakness. It is slowly progressive or nonprogressive, and most adults achieve ambulation. The severe form of the disorder is characterized by absence of spontaneous movement or respiration at birth, arthrogryposis, and death in the first months of life. Much less commonly, late-childhood or even adult-onset can occur. However, adult-onset nemaline myopathy is usually not familial and may represent a different disease (Wallgren-Pettersson et al., 1999; Sanoudou and Beggs, 2001).Myopathy caused by mutations in the ACTA1 gene can show a range of clinical and pathologic phenotypes. Some patients have classic rods, whereas others may also show intranuclear rods, clumped filaments, cores, or fiber-type disproportion (see {255310}), all of which are nonspecific pathologic findings and not pathognomonic of a specific congenital myopathy. The spectrum of clinical phenotypes caused by mutations in ACTA1 may result from different mutations, modifying factors affecting the severity of the disorder, variability in clinical care, or a combination of these factors (Nowak et al., 1999; Kaindl et al., 2004). Genetic Heterogeneity of Nemaline MyopathySee also NEM1 (OMIM ), caused by mutation in the tropomyosin-3 gene (TPM3 ) on chromosome 1q22; NEM2 (OMIM ), caused by mutation in the nebulin gene (NEB ) on chromosome 2q23; NEM4 (OMIM ), caused by mutation in the beta-tropomyosin gene (TPM2 ) on chromosome 9p13; NEM5 (OMIM ), also known as Amish nemaline myopathy, caused by mutation in the troponin T1 gene (TNNT1 ) on chromosome 19q13; NEM6 (OMIM ), caused by mutation in the KBTBD13 gene (OMIM ) on chromosome 15q22; NEM7 (OMIM ), caused by mutation in the cofilin-2 gene (CFL2 ) on chromosome 14q13; NEM8 (OMIM ), caused by mutation in the KLHL40 gene (OMIM ), on chromosome 3p22; NEM9 (OMIM ), caused by mutation in the KLHL41 gene (OMIM ) on chromosome 2q31; NEM10 (OMIM ), caused by mutation in the LMOD3 gene (OMIM ) on chromosome 3p14; and NEM11 (OMIM ), caused by mutation in the MYPN gene (OMIM ) on chromosome 10q21. Several of the genes encode components of skeletal muscle sarcomeric thin filaments (Sanoudou and Beggs, 2001).Mutations in the NEB gene are the most common cause of nemaline myopathy (Lehtokari et al., 2006).

CONGENITAL MYOPATHY WITH EXCESS OF THIN FILAMENTS Is also known as actin myopathy

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive
  • Muscle weakness
  • Flexion contracture


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CONGENITAL MYOPATHY WITH EXCESS OF THIN FILAMENTS

Medium match BETA-THALASSEMIA MAJOR


Beta-thalassemia (BT) major is a severe early-onset form of BT (see this term) characterized by severe anemia requiring regular red blood cell transfusions.

BETA-THALASSEMIA MAJOR Is also known as cooley anemia|mediterranean anemia

Related symptoms:

  • Hearing impairment
  • Muscle weakness
  • Cataract
  • Anemia
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about BETA-THALASSEMIA MAJOR

Medium match MUCOPOLYSACCHARIDOSIS, TYPE VI; MPS6


Mucopolysaccharidosis type VI is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Clinical features and severity are variable, but usually include short stature, hepatosplenomegaly, dysostosis multiplex, stiff joints, corneal clouding, cardiac abnormalities, and facial dysmorphism. Intelligence is usually normal (Azevedo et al., 2004).

MUCOPOLYSACCHARIDOSIS, TYPE VI; MPS6 Is also known as maroteaux-lamy syndrome|mps vi|n-acetylgalactosamine-4-sulfatase deficiency|arsb deficiency|arylsulfatase b deficiency

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Abnormal facial shape
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE VI; MPS6

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Other less relevant matches:

Medium match CAMURATI-ENGELMANN DISEASE


Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability. Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability.

CAMURATI-ENGELMANN DISEASE Is also known as diaphyseal dysplasia 1, progressive|engelmann disease|progressive diaphyseal dysplasia|dpd1|ced|pdd

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Muscle weakness
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about CAMURATI-ENGELMANN DISEASE

Medium match MUCOPOLYSACCHARIDOSIS, TYPE VII; MPS7


Mucopolysaccharidosis type VII is an autosomal recessive lysosomal storage disease characterized by the inability to degrade glucuronic acid-containing glycosaminoglycans. The phenotype is highly variable, ranging from severe lethal hydrops fetalis to mild forms with survival into adulthood. Most patients with the intermediate phenotype show hepatomegaly, skeletal anomalies, coarse facies, and variable degrees of mental impairment (Shipley et al., 1993). MPS VII was the first autosomal mucopolysaccharidosis for which chromosomal assignment was achieved.

MUCOPOLYSACCHARIDOSIS, TYPE VII; MPS7 Is also known as beta-glucuronidase deficiency|mps vii|sly syndrome|gusb deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE VII; MPS7

Medium match NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION


Neurofibromatosis type I is an autosomal dominant disorder characterized by cafe-au-lait spots, Lisch nodules in the eye, and fibromatous tumors of the skin. Individuals with the disorder have increased susceptibility to the development of benign and malignant tumors. NF1 is sometimes referred to as 'peripheral neurofibromatosis.' The worldwide incidence of NF1 is 1 in 2,500 to 1 in 3,000 individuals (reviews by Shen et al., 1996 and Williams et al., 2009).Type II neurofibromatosis (NF2 ) is a genetically distinct disorder caused by mutation in the gene encoding merlin (NF2 ) on chromosome 22q12. NF2, sometimes known as 'central neurofibromatosis,' is characterized by bilateral acoustic neuroma and meningioma, but few skin lesions or neurofibromas (Rouleau et al., 1993).Some patients with homozygous or compound heterozygous mutations in mismatch repair genes (see, e.g., MLH1; {120436} and MSH2; {609309}) have a phenotype characterized by early onset malignancies and mild features of NF1, especially cafe-au-lait spots; this is known as the mismatch repair cancer syndrome (OMIM ), sometimes referred to as brain tumor-polyposis syndrome-1 or Turcot syndrome. These patients typically do not have germline mutations in the NF1 gene, although a study by Wang et al. (2003) suggested that biallelic mutations in mismatch repair genes may cause somatic mutations in the NF1 gene, perhaps resulting in isolated features resembling NF1.See also Legius syndrome (OMIM ), a genetically distinct disorder with a similar phenotype to NF1.

NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION Is also known as von recklinghausen disease due to nf1 mutation or intragenic deletion|neurofibromatosis, peripheral type|von recklinghausen disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION

Medium match HURLER-SCHEIE SYNDROME


Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.

HURLER-SCHEIE SYNDROME Is also known as mucopolysaccharidosis type 1h/s|mucopolysaccharidosis type ih/s|mpsih/s|mps1-hs|mps1h/s

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about HURLER-SCHEIE SYNDROME

Medium match COHEN SYNDROME; COH1


Cohen syndrome is an autosomal recessive multisystem disorder characterized by many clinical features, including facial dysmorphism, microcephaly, truncal obesity, intellectual disability, progressive retinopathy, and intermittent congenital neutropenia (summary by Duplomb et al., 2014).

COHEN SYNDROME; COH1 Is also known as chs1, formerly|pepper syndrome|coh|hypotonia, obesity, and prominent incisors

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MESH MENDELIAN

More info about COHEN SYNDROME; COH1

Medium match HURLER SYNDROME


Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy.

HURLER SYNDROME Is also known as mpsih|mps1h|mps1-h|mucopolysaccharidosis type 1h|mucopolysaccharidosis type ih|hurler disease

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about HURLER SYNDROME

Medium match CARDIOFACIOCUTANEOUS SYNDROME


Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.

CARDIOFACIOCUTANEOUS SYNDROME Is also known as cfcs|cfc syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Genu valgum

Symptoms // Phenotype % cases
Scoliosis Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Kyphosis Common - Between 50% and 80% cases
Macrocephaly Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cardiomyopathy and Genu valgum. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability

Common Symptoms - More than 50% cases


Hepatomegaly

Uncommon Symptoms - Between 30% and 50% cases


Lumbar hyperlordosis

Common Symptoms - More than 50% cases


Hernia

Uncommon Symptoms - Between 30% and 50% cases


Splenomegaly

Common Symptoms - More than 50% cases


Depressed nasal bridge

Uncommon Symptoms - Between 30% and 50% cases


Hypertelorism

Common Symptoms - More than 50% cases


Edema

Uncommon Symptoms - Between 30% and 50% cases


Abnormality of the skeletal system Coarse facial features Flexion contracture Hypertrophic cardiomyopathy Inguinal hernia Hydrocephalus Glaucoma Skeletal dysplasia Kyphoscoliosis Global developmental delay Umbilical hernia Hepatosplenomegaly Abnormal heart valve morphology Hirsutism Osteopenia Headache Dolichocephaly Dermatan sulfate excretion in urine Abnormality of skin pigmentation Macroglossia Corneal opacity Depressivity Abnormality of the dentition Hip dysplasia Respiratory insufficiency Micrognathia Visual impairment Dysostosis multiplex Proptosis Generalized hypotonia Thickened skin Thick vermilion border Congestive heart failure Cognitive impairment Short neck Progressive visual loss Pectus carinatum Feeding difficulties Motor delay Feeding difficulties in infancy Respiratory tract infection Paralysis Nyctalopia Opacification of the corneal stroma Behavioral abnormality High palate Hypertonia Joint stiffness Sleep disturbance Retinal degeneration Failure to thrive Astigmatism Synophrys Decreased body weight Retinopathy Sensorineural hearing impairment Sleep apnea Increased intracranial pressure Limitation of joint mobility Delayed speech and language development Ptosis Seizures Coxa valga Heparan sulfate excretion in urine J-shaped sella turcica Carious teeth Widely spaced teeth Gingival overgrowth Thick eyebrow Abnormality of the ulna Abnormal diaphysis morphology Dilatation Intellectual disability, mild Blindness Neurological speech impairment Recurrent upper respiratory tract infections Broad ribs Spinal canal stenosis Constipation Hypoplasia of the odontoid process Obstructive sleep apnea Anteverted nares Abnormality of the skull Flared iliac wings Visual loss Myelopathy Prominent sternum Back pain Abnormality of the cardiovascular system Optic atrophy Frontal bossing Mandibular prognathia Cardiomegaly Muscle weakness Hyperlordosis Delayed puberty Apnea Respiratory distress Cataract Anemia Arrhythmia Growth delay Waddling gait Hypothyroidism Dyspnea Peripheral visual field loss High, narrow palate Retrognathia Polyhydramnios Muscular hypotonia Heart murmur Pectus excavatum Venous thrombosis Pes cavus Recurrent respiratory infections

Rare Symptoms - Less than 30% cases


Retinal dystrophy Macrotia Failure to thrive in infancy Neoplasm Exotropia Long eyelashes Open mouth Hypertension Pruritus Leukemia Narrow forehead Dysarthria Wide mouth Abnormal heart morphology Growth hormone deficiency Stroke Autism Severe global developmental delay Proximal tapering of metacarpals Joint hypermobility Abnormality of cardiovascular system morphology Abnormal form of the vertebral bodies Pleural effusion Pseudoarthrosis Facial asymmetry Epicanthus Ventriculomegaly Full cheeks Dry skin Short nose Recurrent infections Severe short stature Prominent forehead Intellectual disability, moderate Postnatal growth retardation Platyspondyly Long philtrum Cubitus valgus Neurodegeneration Webbed neck Hypertrichosis Vomiting Gingivitis Pulmonic stenosis Metatarsus adductus Hyperactive deep tendon reflexes Spinal cord compression Recurrent ear infections Thoracic scoliosis Gastroesophageal reflux Cafe-au-lait spot Peripheral axonal neuropathy Multiple joint contractures Abnormal nerve conduction velocity Hypermetropia Sagittal craniosynostosis Cor pulmonale Wide nose Communicating hydrocephalus Tracheal stenosis Diastasis recti Protuberant abdomen Rhinitis Arthropathy Restrictive ventilatory defect Toe walking Abnormal pyramidal sign Abnormality of dental morphology Chronic otitis media Abnormal mitral valve morphology Abnormal aortic valve morphology Generalized hirsutism Asthma Otitis media Elbow flexion contracture Microdontia Abnormal vertebral morphology Abnormality of the ribs Abnormality of retinal pigmentation Abnormality of the optic disc Abnormality of the gingiva Clinodactyly of the 5th finger Strabismus Thrombocytopenia Mitral valve prolapse Coarctation of aorta Malar flattening Recurrent otitis media Ventricular septal defect Precocious puberty Downslanted palpebral fissures Neurofibromas Myopia Multiple cafe-au-lait spots Cryptorchidism Nystagmus Camptodactyly of finger Increased size of nasopharyngeal adenoids Abnormality of glycosaminoglycan metabolism Diarrhea Abnormality of lysosomal metabolism Abnormality of the tonsils Abnormality of mucopolysaccharide metabolism Urinary glycosaminoglycan excretion Abdominal pain Hyperkeratosis Conductive hearing impairment Hernia of the abdominal wall Hip subluxation Craniosynostosis Myocardial infarction Abnormality of dental enamel Cervical myelopathy Delayed eruption of teeth Malabsorption Pallor Decreased fetal movement Elevated hepatic transaminase Arthralgia Easy fatigability Diabetes mellitus Leukopenia Knee flexion contracture Neonatal hypotonia Bone pain Vertigo Neutropenia Abnormality of the nervous system Pes planus Hyperactivity Gait disturbance Skeletal muscle atrophy Pain Ataxia Dysphagia Slender build Constrictive median neuropathy Retinal fold Cervical instability Paresthesia Osteoporosis Sclerosis of skull base Falls Split hand Proximal muscle weakness Facial palsy Aortic valve stenosis Limb muscle weakness Spastic tetraplegia Tetraplegia Optic nerve compression Progressive neurologic deterioration Abnormality of the radius Thoracic kyphosis Gangrene Intellectual disability, severe Hypoplastic iliac wing Poor appetite Broad ischia Abnormality of peripheral nerve conduction Hypoplasia of teeth Hyperreflexia Endocardial fibroelastosis Short clavicles Seborrheic dermatitis Flaring of rib cage Cervical subluxation Mandibular condyle hypoplasia Abnormality of the elbow Recurrent lower respiratory tract infections Pulmonary edema Palpebral edema Foam cells Conical tooth Angina pectoris Shallow orbits Upper airway obstruction Large earlobe Beaking of vertebral bodies Abnormality of the respiratory system Abnormality of the clavicle Hypoplastic ilia Lumbar kyphosis Rhinorrhea Large sella turcica Cervical kyphosis Short mandibular rami Thoracolumbar kyphoscoliosis Abnormality of the pubic bone Calvarial hyperostosis Abnormality of the middle ear ossicles Hypoplasia of the femoral head Enlargement of the wrists Calcification of falx cerebri Abnormal hand morphology C1-C2 subluxation Atlantoaxial dislocation Anterior rib cupping Flared nostrils Broad femoral neck Protruding tongue Enlarged tonsils Hypoplastic cervical vertebrae Narrow pelvis bone Meckel diverticulum Anterior open bite Difficulty standing Large face Mucopolysacchariduria Biconcave vertebral bodies Chronic rhinitis Diaphyseal thickening Abnormal CNS myelination Delayed ossification of carpal bones Craniofacial osteosclerosis Aortic regurgitation Thickened calvaria Congenital neutropenia Tapetoretinal degeneration Thick hair Iris atrophy Macrodontia Bull's eye maculopathy Granulocytopenia Hyperplasia of the maxilla Aplasia/Hypoplasia of the earlobes Laryngeal stenosis Chorioretinal dystrophy Cutis gyrata of scalp Hemeralopia Narrow palm Narrow philtrum Chorioretinal dysplasia Recurrent aphthous stomatitis Abnormality of the larynx Thick corpus callosum Hiatus hernia Disproportionate tall stature Truncal obesity Abnormality of the hip bone Narrow nasal bridge Celiac disease Weak cry Subcapsular cataract Posterior subcapsular cataract Bone spicule pigmentation of the retina Microglossia Vocal cord paralysis Facial hypotonia Misalignment of teeth Deep venous thrombosis Furrowed tongue Macular edema High-pitched cry Prominent eyelashes Coronary artery atherosclerosis Cerebral palsy Encephalocele Left ventricular hypertrophy Chronic diarrhea Abnormality of epiphysis morphology Spastic paraparesis Coxa vara Delayed tarsal ossification Progressive hearing impairment Myopathy Corneal dystrophy Hyperammonemia Prominent supraorbital ridges Hemiplegia Language impairment Stridor Flared metaphysis Mitral regurgitation Interphalangeal joint contracture of finger Macrodontia of permanent maxillary central incisor Respiratory failure Childhood-onset truncal obesity Hypoplastic philtrum Cat cry Slender toe Wide nasal bridge Rigidity Pneumonia Mental deterioration Intellectual disability, profound Abnormality of eye movement Hyporeflexia Inability to walk Everted lower lip vermilion Broad nasal tip Areflexia Abnormality of the skin Abnormality of joint mobility Abnormality of premolar morphology Thick skull base Hypoplasia of the zygomatic bone Atopic dermatitis Alopecia of scalp Abnormal eyelash morphology Arnold-Chiari type I malformation Enlarged kidney Absent eyelashes Premature skin wrinkling Anal stenosis Abnormality of the gastrointestinal tract Short attention span Woolly hair Thick upper lip vermilion Abnormal hair pattern Dystrophic fingernails Abnormality of the optic nerve Underdeveloped supraorbital ridges Submucous cleft hard palate Delayed CNS myelination Malnutrition Ectropion Melanocytic nevus Obsessive-compulsive behavior Absent eyebrow Large for gestational age Open bite Hydroureter Generalized hyperpigmentation Aplasia/Hypoplasia of the eyebrow Neurodevelopmental delay Infantile spasms Abnormality of the sternum Long palpebral fissure Biparietal narrowing Curly hair Abnormality of the testis Abnormal myocardium morphology Sparse eyebrow Abnormal location of ears Generalized ichthyosis Laryngeal cleft Functional abnormality of the gastrointestinal tract Tongue thrusting Hyperkeratosis pilaris Abnormality of the hairline Puberty and gonadal disorders Optic nerve dysplasia Morphological abnormality of the gastrointestinal tract Cutaneous T-cell lymphoma Inappropriate crying Abnormality of the auditory canal Multiple palmar creases Eyelid fasciculation Multiple plantar creases Hypoplasia of the frontal lobes Patchy alopecia Abnormality of refraction Excessive wrinkled skin Deep palmar crease Gastrointestinal dysmotility Slow-growing hair Thickened helices Subvalvular aortic stenosis Hyperextensibility of the finger joints Abnormality of the pulmonary artery Abnormality of hair texture Abnormal tricuspid valve morphology Cavernous hemangioma Multiple lentigines Sparse or absent eyelashes Increased nuchal translucency Endocarditis Frontal balding Anterior creases of earlobe Scaling skin Bilateral ptosis Deformed humerus Abnormality of the kidney EEG abnormality Hydronephrosis Aggressive behavior Telecanthus Low-set, posteriorly rotated ears Abnormality of the eye Irritability Cerebral cortical atrophy Erythema Sparse hair Scarring Abnormal cardiac septum morphology Nail dystrophy Abnormality of the cerebral white matter Hypotrichosis High forehead Hyperhidrosis Long face Constriction of peripheral visual field Enlarged vertebral pedicles Bullet-shaped phalanges of the hand Broad long bone diaphyses Abnormality of the wing of the ilium Abnormality of the tympanic membrane Stiff interphalangeal joints Abnormal mandible coronoid process morphology Abnormal mandibular ramus morphology Posteriorly rotated ears Delayed ossification of the hand bones Low-set ears Atrial septal defect Cerebral atrophy Encephalopathy Delayed skeletal maturation Alopecia Ichthyosis Bulbous nose Brittle hair Delayed gross motor development Oculomotor apraxia Cutis laxa Abnormal palate morphology Aplasia/Hypoplasia of the corpus callosum Hemangioma Abnormality of the genitourinary system Optic nerve hypoplasia Narrow palate Palmoplantar hyperkeratosis Abnormality of vision Relative macrocephaly Poor suck Hyperextensible skin Deep philtrum Redundant skin Sparse eyelashes Abnormality of the nail Bruising susceptibility Premature birth Hepatic steatosis Palmoplantar keratoderma Abdominal distention Abnormal bleeding Nevus Vesicoureteral reflux Intestinal malrotation Dental malocclusion Aspiration Low posterior hairline Fine hair Hemiparesis Inflammatory abnormality of the skin Lymphedema Hyperpigmentation of the skin Cerebral visual impairment Cerebral hemorrhage Pigmentary retinopathy Cough Parathyroid adenoma Meningioma Neoplasm of the endocrine system Myocardial fibrosis Brain neoplasm Astrocytoma Aqueductal stenosis Pheochromocytoma Overweight Complete atrioventricular canal defect Anomalous pulmonary venous return Night sweats Paraganglioma Carcinoid tumor Rhabdomyosarcoma Increased reactive oxygen species production Severe vision loss Glioma Incoordination Cervical cord compression Sensorimotor neuropathy Spina bifida Atherosclerosis Reduced bone mineral density Breast carcinoma Sarcoma Renal cell carcinoma Clitoral hypertrophy Sensory axonal neuropathy Hypophosphatemia Pulmonary fibrosis Tibial bowing Freckling Osteomalacia Nasolacrimal duct obstruction Schwannoma Hypsarrhythmia Tibial pseudoarthrosis Acute promyelocytic leukemia Plexiform neurofibroma Inguinal freckling Spinal neurofibromas Arterial fibromuscular dysplasia Cerebral artery stenosis Brow ptosis Optic nerve glioma Disproportionate short-trunk short stature Ovoid vertebral bodies Aseptic necrosis Metaphyseal irregularity Metaphyseal widening Epiphyseal dysplasia Subcutaneous neurofibromas Neurofibrosarcoma Renal phosphate wasting Dural ectasia Chronic myelogenous leukemia Lisch nodules Neoplasm of the central nervous system Gastrointestinal stroma tumor Fibular bowing Leiomyosarcoma Epigastric pain Neuroma Soft tissue sarcoma Single ventricle Renal artery stenosis Renovascular hypertension Axillary freckling Embryonal rhabdomyosarcoma Vestibular Schwannoma Aganglionic megacolon Hypoplastic acetabulae Accelerated skeletal maturation Metaphyseal dysplasia Poor speech Raynaud phenomenon Ascites Aplasia/Hypoplasia of the radius Abnormality of the vertebral column Broad-based gait Hydrops fetalis Abnormality of tibia morphology Cardiac arrest Elevated erythrocyte sedimentation rate Pterygium Reduced subcutaneous adipose tissue Spondyloepiphyseal dysplasia Hyperostosis Facial paralysis Abnormality of femur morphology Cachexia Cranial nerve compression Cortical thickening of long bone diaphyses Abnormal subcutaneous fat tissue distribution Elevated aldolase level Diaphyseal dysplasia Spasticity Diaphyseal sclerosis Talipes equinovarus Extramedullary hematopoiesis Limb pain Cranial hyperostosis Lower limb pain Urinary retention Abnormality of the humerus Otosclerosis Muscular hypotonia of the trunk Mild short stature Abnormality of pelvic girdle bone morphology Anterior wedging of L1 Fatigue Difficulty walking Weight loss Hypogonadism Hypoglycemia Autistic behavior Attention deficit hyperactivity disorder Recurrent fractures Sensory neuropathy Lymphoma Gastrointestinal hemorrhage Specific learning disability Overgrowth Tetralogy of Fallot Anterior wedging of L2 Muscular dystrophy Peripheral neuropathy Thoracolumbar scoliosis Narrow greater sacrosciatic notches Nonimmune hydrops fetalis Pulmonary insufficiency Thoracolumbar kyphosis Acetabular dysplasia Thoracic kyphoscoliosis Tinnitus Snoring Anorexia Vasculitis Anterior beaking of lumbar vertebrae Decreased pulmonary function Bone marrow hypocellularity Anterior beaking of lower thoracic vertebrae Increased bone mineral density Diplopia Spastic tetraparesis Lower limb muscle weakness Rheumatoid arthritis Arthritis Cerebellar hypoplasia Rod-cone dystrophy Reduced visual acuity Infantile muscular hypotonia Respiratory insufficiency due to muscle weakness Thin upper lip vermilion Joint laxity Obesity Protruding ear Foot dorsiflexor weakness Short philtrum Prominent nasal bridge Small for gestational age Finger syndactyly EMG: myopathic abnormalities Congenital contracture Joint hyperflexibility Thin ribs EMG: neuropathic changes Contractures of the joints of the upper limbs Abnormality of the styloid process of ulna Abnormality of the humeral epiphysis Microcephaly Hypoventilation Spinal rigidity Microphthalmia Bulbar palsy Mildly elevated creatine phosphokinase Myopathic facies Intrauterine growth retardation Mask-like facies Myotonia Akinesia Narrow face Smooth philtrum Facial diplegia Sandal gap Tall stature Arthrogryposis multiplex congenita Progressive microcephaly Preauricular skin tag Low anterior hairline Intellectual disability, progressive Recurrent skin infections High myopia Laryngomalacia Reduced number of teeth Short metatarsal Radioulnar synostosis Intracranial hemorrhage Dilated cardiomyopathy Clumsiness Pulmonary hypoplasia Arachnodactyly Tapered finger Joint contracture of the hand Iris coloboma Frequent falls Small hand Retinal detachment Highly arched eyebrow Single transverse palmar crease Cortical sclerosis Microcornea Hypoplasia of the maxilla Short metacarpal Prominent nose Generalized muscle weakness Aciduria Convex nasal ridge Widely patent coronal suture Abnormality of the lumbar spine Tetraparesis Blepharitis Coarse hair Pulmonary arterial hypertension Cirrhosis Exertional dyspnea Anxiety Jaundice Papilledema Abnormality of the metacarpal bones Chronic sinusitis Upslanted palpebral fissure Hydrocele testis Sparse axillary hair Sparse pubic hair Dilation of lateral ventricles Arnold-Chiari malformation Skin ulcer Late-onset distal muscle weakness Cardiorespiratory arrest Malar prominence Monochromacy Hypersplenism Abnormal hemoglobin Abnormality of the hypothalamus-pituitary axis Neoplasm of the liver Increased serum ferritin Cholelithiasis Hypoparathyroidism Lower limb spasticity Microcytic anemia Adrenal insufficiency Short ribs Abnormality of the thorax Congenital hip dislocation Fever Shield chest Abnormality of the glenoid fossa Short tubular bones of the hand Limited shoulder movement Nemaline bodies Exercise-induced muscle stiffness Dilated third ventricle Abnormality of the breast Small abnormally formed scapulae Fetal akinesia sequence Abnormality of the acetabulum Posterior scalloping of vertebral bodies Abnormality of the skull base Abnormality of the sella turcica Abnormal metaphyseal trabeculation Abnormality of femoral epiphysis Anterior scalloping of vertebral bodies Abnormality of cranial sutures Type 1 muscle fiber predominance Thickened ribs Nasal obstruction Corneal crystals Abnormal cornea morphology Carpal bone hypoplasia Platybasia Wide cranial sutures Percussion myotonia Peripheral edema Aortic valve calcification Progressive flexion contractures Fetal distress Diaphragmatic paralysis Neck flexor weakness Mitral valve calcification Delayed menarche Breech presentation Frontal hirsutism Oral aversion



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