Cardiomyopathy, and Thick eyebrow

Diseases related with Cardiomyopathy and Thick eyebrow

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


Top matches:

Medium match MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D


The mucopolysaccharidoses are a family of lysosomal storage diseases caused by deficiencies of enzymes required for the catabolism of glycosaminoglycans. The defects result in accumulation of excessive intralysosomal glycosoaminoglycans (mucopolysaccharides) in various tissues, causing distended lysosomes to accumulate in the cell and interfere with cell function. Multiple types have been described (Mok et al., 2003).

MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D Is also known as sanfilippo syndrome d|mps iiid|n-acetylglucosamine-6-sulfatase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D

Medium match CORNELIA DE LANGE SYNDROME 2; CDLS2


Cornelia de Lange syndrome is a clinically heterogeneous developmental disorder characterized by malformations affecting multiple systems. Affected individuals have dysmorphic facial features, cleft palate, distal limb defects, growth retardation, and developmental delay. About 4 to 6% of patients have mutations in the X-linked SMC1A gene, whereas about 60% have mutations in the NIPBL gene (OMIM ) on chromosome 5p13 (CDLS1 ) (summary by Musio et al., 2006, Hoppman-Chaney et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of Cornelia de Lange syndrome, see {122470}.

CORNELIA DE LANGE SYNDROME 2; CDLS2 Is also known as cornelia de lange syndrome, x-linked|cdls, x-linked

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 2; CDLS2

Medium match HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, CANTU TYPE


Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism.

HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, CANTU TYPE Is also known as hypertrichotic osteochondrodysplasia

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Strabismus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, CANTU TYPE

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Other less relevant matches:

Medium match MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM WITH VARIABLE CRANIOFACIAL ANOMALIES


Mitochondrial DNA depletion syndrome-13 is an autosomal recessive disorder characterized by early infantile onset of encephalopathy, hypotonia, lactic acidosis, and severe global developmental delay. Cells derived from patient tissues show defects in mitochondrial oxidative phosphorylation and decreased mtDNA content (summary by Bonnen et al., 2013 and Gai et al., 2013).For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (OMIM ).

MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM WITH VARIABLE CRANIOFACIAL ANOMALIES Is also known as mtdna depletion syndrome, encephalomyopathic form with variable craniofacial anomalies

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM WITH VARIABLE CRANIOFACIAL ANOMALIES

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 ZIMMERMANN-LABAND SYNDROME


Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet.

ZIMMERMANN-LABAND SYNDROME Is also known as laband syndrome|gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome|fibromatosis, gingival, with abnormal fingers, fingernails, nose, and ears, and splenomegaly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about ZIMMERMANN-LABAND SYNDROME

Medium match COFFIN-LOWRY SYNDROME


Coffin-Lowry syndrome (CLS) is a rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes.

COFFIN-LOWRY SYNDROME Is also known as cls

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COFFIN-LOWRY SYNDROME

Medium match MYHRE SYNDROME


Myhre syndrome is characterised by striking muscular build, short stature, reduced joint mobility, brachydactyly, mixed hearing loss and mental retardation of variable severity. Facial dysmorphism with short palpebral fissures, short philtrum, thin lips, maxillary hypoplasia and prognathism is present. Thick skin has been observed in six patients.

MYHRE SYNDROME Is also known as laryngotracheal stenosis, arthropathy, prognathism, and short stature|laps syndrome|growth-mental deficiency syndrome of myhre|facial dysmorphism-intellectual disability-short stature-hearing loss syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MYHRE SYNDROME

Medium match FABRY DISEASE


Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations.

FABRY DISEASE Is also known as ceramide trihexosidase deficiency|hereditary dystopic lipidosis|fd|alpha-galactosidase a deficiency|diffuse angiokeratoma|gla deficiency|angiokeratoma corporis diffusum|anderson-fabry disease

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Pain


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about FABRY DISEASE

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

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Thick eyebrow

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cardiomyopathy and Thick eyebrow. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Short stature

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia

Common Symptoms - More than 50% cases


Mandibular prognathia

Uncommon Symptoms - Between 30% and 50% cases


Cataract

Common Symptoms - More than 50% cases


Macrocephaly

Uncommon Symptoms - Between 30% and 50% cases


Abnormality of the skeletal system

Common Symptoms - More than 50% cases


Scoliosis

Uncommon Symptoms - Between 30% and 50% cases


Coarse facial features Thick lower lip vermilion Thick vermilion border Growth delay Hypertrophic cardiomyopathy Wide mouth Downslanted palpebral fissures Recurrent infections Dilatation Short neck Hypertelorism Strabismus Sensorineural hearing impairment Microcephaly Brachydactyly High palate Cognitive impairment Ventriculomegaly Gingival overgrowth Prominent nasal bridge Respiratory tract infection Protruding ear Synophrys Epicanthus Hypertension Depressed nasal bridge Anteverted nares Behavioral abnormality Broad ribs Hypertrichosis Hirsutism Intellectual disability, mild Postnatal growth retardation Motor delay Patent ductus arteriosus Dyspnea Edema Highly arched eyebrow Hernia Short distal phalanx of finger Widely spaced teeth Inguinal hernia Low anterior hairline Long eyelashes Platyspondyly Kyphosis Mitral valve prolapse Ventricular hypertrophy Mitral regurgitation Umbilical hernia Kyphoscoliosis Muscular hypotonia Restrictive cardiomyopathy Hypoplasia of the maxilla Flexion contracture Hepatomegaly Splenomegaly Absent speech Optic atrophy Arrhythmia Thickened calvaria Abnormal heart valve morphology Small for gestational age Severe global developmental delay Pericardial effusion Thin upper lip vermilion Joint hypermobility Gastroesophageal reflux Prominent supraorbital ridges Macrotia Ptosis Intrauterine growth retardation Congestive heart failure

Rare Symptoms - Less than 30% cases


Hypertonia Hypoplasia of the corpus callosum Gastrointestinal dysmotility Nystagmus Failure to thrive Skeletal muscle atrophy Cough Polyhydramnios Hypospadias Cerebellar atrophy Abnormality of the cardiovascular system Neutropenia Short philtrum Severe short stature Hydrocephalus Cerebellar hypoplasia Renal tubular acidosis Congenital cataract Everted lower lip vermilion Astigmatism Malar flattening Hepatosplenomegaly Prominent eyelashes Bulbous nose Delayed eruption of teeth Thickened skin Intellectual disability, progressive Aortic root aneurysm Loss of consciousness Emphysema Hyperextensibility of the finger joints Abnormality of dental morphology Peripheral neuropathy Craniofacial hyperostosis Pectus excavatum Pes planus Feeding difficulties in infancy Neurological speech impairment Abnormality of retinal pigmentation Joint hyperflexibility Tapered finger Single transverse palmar crease Open mouth Abnormal mitral valve morphology Posteriorly rotated ears Abnormality of the nervous system Obesity Intellectual disability, moderate Hyperlordosis Pectus carinatum Corneal opacity Genu valgum Vertigo Constipation Tetraplegia Macroglossia Lumbar hyperlordosis Intellectual disability, severe Midface retrusion Microphthalmia Abnormal lung morphology Respiratory distress Respiratory insufficiency Ventricular septal defect Cryptorchidism Celiac disease Abnormal aortic valve morphology Myopia Ataxia Short metacarpal Poor speech Generalized hirsutism Sparse hair Deeply set eye Skeletal dysplasia Wheezing Recurrent upper respiratory tract infections Accelerated skeletal maturation Coxa valga Narrow forehead Recurrent respiratory infections Coarse hair Growth abnormality Heparan sulfate excretion in urine Lymphedema Decreased body weight Clinodactyly Dysostosis multiplex Abnormality of the metaphysis Stroke Aortic regurgitation Hypothyroidism Asymmetric septal hypertrophy Finger syndactyly Progressive hearing impairment Short foot Anxiety Precocious puberty Low-set ears Curly eyelashes Frontal bossing Dysphagia Smooth philtrum Concentric hypertrophic cardiomyopathy Diarrhea Prominent forehead Generalized hypertrichosis Hyperactivity Spasticity Metaphyseal widening Delayed puberty Micrognathia Wide nasal bridge Cleft palate Joint stiffness Delayed skeletal maturation Cutis marmorata Arthritis Broad hallux Small hand Large for gestational age Hyperkeratosis Arthralgia Myalgia Elevated serum creatinine Carcinoma Tubulointerstitial nephritis Edema of the lower limbs Renal tubular dysfunction Transient ischemic attack Xerostomia Abnormal EKG Abnormality of lipid metabolism Abdominal pain Hypohidrosis Hyperhidrosis Chronic fatigue Fever Abnormal renal physiology Fatigue Miosis T-wave inversion Vomiting Periorbital fullness High-frequency hearing impairment Renal insufficiency Headache Abnormal myocardium morphology Abnormality of the nose Abnormality of femur morphology Myocardial fibrosis Tubular atrophy Depressivity Sinus bradycardia Achalasia Chronic obstructive pulmonary disease Angina pectoris Clubbing of fingers Peripheral arterial stenosis Reduced ejection fraction Glycosuria Supraventricular tachycardia Large earlobe Oligospermia Abnormality of the gastrointestinal tract Heat intolerance Proteinuria Glomerulopathy Hyperlipidemia Chronic kidney disease Atrioventricular block Easy fatigability Tinnitus Ventricular arrhythmia Abdominal distention Reduced bone mineral density Ischemic stroke Corneal dystrophy Chest pain Sudden cardiac death Abnormal intestine morphology Syncope Ventricular tachycardia Purpura Hemiplegia Urinary incontinence Hypotension Aminoaciduria Nephrotic syndrome Atrial fibrillation Exercise intolerance Myocardial infarction Palpitations Subcutaneous nodule Left ventricular hypertrophy Spontaneous abortion Chronic pain Fasciculations Bradycardia Abnormality of the hand Glomerulosclerosis Telangiectasia of the skin Tricuspid regurgitation Orthostatic hypotension Progressive sensorineural hearing impairment Interstitial pulmonary abnormality Elevated erythrocyte sedimentation rate Coronary artery atherosclerosis Impotence Bundle branch block Anhidrosis Anorexia Abnormality of the kidney Polyuria Developmental regression Skin rash Diabetes insipidus Papule Polydipsia Stage 5 chronic kidney disease Muscle cramps Nephropathy Hematuria Personality changes Tachycardia Nausea Paresthesia Impaired vibratory sensation Heart murmur Nausea and vomiting Malabsorption Abnormality of the cerebral white matter Pruritus Clubbing Abnormal autonomic nervous system physiology Neonatal hypotonia Tubulointerstitial fibrosis Constriction of peripheral visual field Short metatarsal Radioulnar synostosis Intracranial hemorrhage Failure to thrive in infancy Rheumatoid arthritis Cubitus valgus Cerebral hemorrhage Laryngomalacia Disproportionate tall stature Truncal obesity Abnormality of the hip bone Narrow nasal bridge Weak cry Subcapsular cataract Reduced number of teeth Recurrent skin infections Peripheral visual field loss Decreased fetal movement Growth hormone deficiency Aciduria Otitis media Convex nasal ridge Progressive visual loss Pigmentary retinopathy High myopia Venous thrombosis Clumsiness Tall stature Exotropia Progressive microcephaly Preauricular skin tag Sandal gap Leukopenia Thoracic scoliosis Hiatus hernia Microcornea Narrow philtrum Hyperplasia of the maxilla Laryngeal stenosis Chorioretinal dystrophy Cutis gyrata of scalp Hemeralopia Narrow palm Chorioretinal dysplasia Granulocytopenia High-pitched cry Thick corpus callosum Macrodontia of permanent maxillary central incisor Childhood-onset truncal obesity Hypoplastic philtrum Cat cry Congenital neutropenia Bull's eye maculopathy Posterior subcapsular cataract Furrowed tongue Gingivitis Microglossia Vocal cord paralysis Facial hypotonia Misalignment of teeth Deep venous thrombosis Macular edema Macrodontia Bone spicule pigmentation of the retina Abnormality of the larynx Aplasia/Hypoplasia of the earlobes Recurrent aphthous stomatitis Tapetoretinal degeneration Thick hair Iris atrophy Prominent nose Retinal detachment Abnormal thrombosis Hyposthenuria Distal renal tubular acidosis Increased blood urea nitrogen Reduced sperm motility Angiokeratoma Obstructive lung disease Impaired temperature sensation Shortened QT interval Decreased glomerular filtration rate Angiokeratoma corporis diffusum Decreased lacrimation Shortened PR interval Coronary artery stenosis Mucosal telangiectasiae Unexplained fevers Vascular tortuosity Nephrogenic diabetes insipidus Functional abnormality of the gastrointestinal tract Primary hypothyroidism Abnormality of the renal tubule Abnormal cornea morphology Dysesthesia Supraventricular arrhythmia Conjunctival telangiectasia Microalbuminuria Biventricular hypertrophy Abnormality of temperature regulation Abnormal endocardium morphology Abnormality of cardiovascular system physiology Decreased female libido Vascular skin abnormality Retinal vascular tortuosity Corneal crystals Limb pain ST segment depression Impaired renal concentrating ability High, narrow palate Paralysis Rod-cone dystrophy Diabetes mellitus Reduced visual acuity Retrognathia Pain Joint laxity Retinopathy Visual loss Nyctalopia Arachnodactyly Retinal degeneration Abnormality of skin pigmentation Iris coloboma Retinal dystrophy Clinodactyly of the 5th finger Thrombocytopenia Abnormality of glycosphingolipid metabolism Acroparesthesia Abnormality of the forehead Hyperkeratotic papule Tortuosity of conjunctival vessels Left ventricular septal hypertrophy Tenesmus Heavy proteinuria Abnormal common carotid artery morphology Blindness Abnormal ST segment Increased carotid artery intimal medial thickness Increased glomerular filtration rate Abnormality of the common coagulation pathway Abnormal glomerular filtration rate Cornea verticillata Visual impairment Anemia Pseudoepiphyses of the metacarpals Hypoplasia of eyelid Broad-based gait Thoracolumbar scoliosis Spinal cord compression Thoracic kyphosis Hypoplasia of the odontoid process Hyperactive deep tendon reflexes Mild short stature Metatarsus adductus Spondyloepiphyseal dysplasia Pleural effusion Pterygium Opacification of the corneal stroma Cardiac arrest Hydrops fetalis Spastic tetraplegia Recurrent ear infections Hip dysplasia Webbed neck Ascites Neurodegeneration Facial asymmetry Muscular hypotonia of the trunk Short nose Talipes equinovarus Persistent lactic acidosis Mitochondrial respiratory chain defects Hyperalaninemia Concave nasal ridge Global brain atrophy Hyperammonemia Nonimmune hydrops fetalis Pulmonary insufficiency Truncal ataxia Bilateral sensorineural hearing impairment Cavernous hemangioma Gingival fibromatosis Long penis Colpocephaly Thin bony cortex Dystrophic fingernails Protruding tongue Anonychia Hemangioma Spina bifida occulta Hemivertebrae Nephrolithiasis Small nail Intellectual disability, profound Overgrowth Thoracolumbar kyphosis Broad forehead Polydactyly Anterior beaking of lower thoracic vertebrae Proximal tapering of metacarpals Decreased pulmonary function Anterior beaking of lumbar vertebrae Dermatan sulfate excretion in urine Pseudoarthrosis Snoring Narrow greater sacrosciatic notches J-shaped sella turcica Thoracic kyphoscoliosis Prominent sternum Acetabular dysplasia Plagiocephaly Narrow face Everted upper lip vermilion Esotropia Osteopenia Osteoporosis Long philtrum Delayed speech and language development Skull asymmetry Semilobar holoprosencephaly Limited elbow movement Hemihypertrophy Enlarged cisterna magna Prominent metopic ridge Proximal placement of thumb Holoprosencephaly Wide intermamillary distance Febrile seizures Full cheeks Cardiomegaly Downturned corners of mouth Coloboma EEG abnormality Brachycephaly Feeding difficulties Cellular metachromasia Ovoid thoracolumbar vertebrae Thickened ribs Drooling Chronic diarrhea Sleep disturbance Aggressive behavior Difficulty walking Dysarthria Narrow chest Low posterior hairline Leukodystrophy Broad first metatarsal Choreoathetosis Increased serum lactate Delayed myelination Brain atrophy Lactic acidosis Abnormality of the pinna Elevated hepatic transaminase Acidosis Encephalopathy Cerebral atrophy Dystonia Widened posterior fossa Congenital hypertrophy of left ventricle Hypoplastic ischiopubic rami Cuboid-shaped vertebral bodies Bicuspid aortic valve Bilateral coxa valga Congenital, generalized hypertrichosis Erlenmeyer flask deformity of the femurs Large sella turcica Deep plantar creases Esodeviation Broad hallux phalanx Thick upper lip vermilion Ovoid vertebral bodies Short hallux Thin ribs Flared metaphysis Elevated alkaline phosphatase Pyloric stenosis Biliary atresia Aortic arch aneurysm Gingival cleft Choanal atresia Overlapping toe Skeletal muscle hypertrophy Radial deviation of finger Oral-pharyngeal dysphagia Stridor Cone-shaped epiphysis Abnormality of the voice Short long bone Narrow palpebral fissure EMG abnormality Aortic valve stenosis Short toe Abnormality of epiphysis morphology Short palpebral fissure Blurred vision Fine hair Abnormality of the ribs Coarctation of aorta Specific learning disability Amenorrhea Limitation of joint mobility Bifid uvula Progressive cerebellar ataxia Short palm Thin vermilion border Oral cleft Hypermetropia Microtia Abnormal cardiac septum morphology 2-3 toe syndactyly External genital hypoplasia Blepharophimosis Epispadias Enlarged vertebral pedicles Laryngotracheal stenosis Generalized muscle hypertrophy Abnormality of the pubic bone Constrictive pericarditis Pear-shaped nose Large iliac wings Esophageal stenosis Pseudopapilledema Stiff skin Abnormality of the penis Abnormal lip morphology Unilateral cleft lip Abnormality of the menstrual cycle Femoral hernia Short finger Peptic ulcer Constrictive median neuropathy Tracheal stenosis Hypoplastic iliac wing Chronic constipation Oligomenorrhea Irregular vertebral endplates Submucous cleft hard palate Pericarditis Arthropathy Keratoconus Abnormal joint morphology High hypermetropia Vertebral fusion Scarring Autistic behavior Short distal phalanx of toe Narrow palate Anteriorly placed anus Atonic seizures Broad palm Abnormality of digit Progressive spasticity Abnormality of neuronal migration Large hands Aplasia/Hypoplasia of the cerebellum Self-injurious behavior Redundant skin Schizophrenia Sleep apnea Aplasia/Hypoplasia of the corpus callosum Cutis laxa Abnormality of the hair Severe sensorineural hearing impairment Wide anterior fontanel Abnormal form of the vertebral bodies Cerebellar vermis hypoplasia Psychosis Dental malocclusion Hypodontia Wide nose Dilated cardiomyopathy Mental deterioration Telecanthus Cerebral cortical atrophy Gait disturbance Muscle weakness Mesiodens Spinal canal stenosis Soft skin Camptodactyly Lumbar kyphosis Cleft lip Conductive hearing impairment Autism Narrow mouth Respiratory failure Hypogonadism Abnormal heart morphology Abnormality of cardiovascular system morphology Syndactyly Drumstick terminal phalanges Abnormality of the nasal alae Thick nasal septum Bifid sternum Uterine prolapse Retinoschisis Acrocyanosis Stooped posture Cataplexy Hyperconvex fingernails Abnormal tricuspid valve morphology Broad finger Narrow iliac wings Thick nasal alae Abnormal diaphysis morphology Premature loss of primary teeth Rectal prolapse Advanced eruption of teeth Myelopathy Delayed closure of the anterior fontanelle Hypoplastic fingernail Slender toe



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