Congestive heart failure, and High, narrow palate

Diseases related with Congestive heart failure and High, narrow palate

In the following list you will find some of the most common rare diseases related to Congestive heart failure and High, narrow palate that can help you solving undiagnosed cases.


Top matches:

High match FAMILIAL MITRAL VALVE PROLAPSE


Mitral valve prolapse (MVP) has a prevalence of approximately 2 to 3% in the general population. It is characterized by fibromyxomatous changes in mitral leaflet tissue, with upward displacement of 1 or both leaflets into the left atrium during systole; MVP is diagnosed when the movement of the mitral leaflets exceeds 2 mm. In classic MVP, leaflets are at least 5 mm thick, whereas in nonclassic MVP, they are less than 5 mm thick. Auscultatory findings, when present, consist of a midsystolic click and/or a late systolic murmur. The natural history of MVP varies from benign, with a normal life expectancy, to severe complications associated with the development of significant mitral regurgitation, including congestive heart failure, bacterial endocarditis, atrial fibrillation, thromboembolism, and even sudden death. However, complications are uncommon, affecting less than 3% of individuals with MVP (Freed et al., 1999; Grau et al., 2007; Delling and Vasan, 2014).Grau et al. (2007) provided a detailed review of the genetics of mitral valve prolapse. Delling and Vasan (2014) reviewed the epidemiology and pathophysiology of MVP, with discussion of disease progression, genetics, and molecular basis. Genetic Heterogeneity of Familial Mitral Valve ProlapseSeveral loci for mitral valve prolapse (MVP) have been been mapped: MVP1 to chromosome 16p; MVP2 (OMIM ) to chromosome 11p; and MVP3 (OMIM ) to chromosome 13q.

FAMILIAL MITRAL VALVE PROLAPSE Is also known as myxomatous mitral valve prolapse 1|barlow syndrome|pmv|mmvp1|floppy mitral valve|myxomatous valvular disease, familial|mitral regurgitation, familial|mvp prolapsed mitral valve|mitral valve prolapse, myxomatous 1|click-murmur syndrome|mitral valve prolaps

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Micrognathia
  • Pain


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL MITRAL VALVE PROLAPSE

High match CRANIOECTODERMAL DYSPLASIA


Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa).

CRANIOECTODERMAL DYSPLASIA Is also known as levin syndrome i|sensenbrenner syndrome|ced

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA

High match MARFAN SYNDROME; MFS


A heritable disorder of fibrous connective tissue, Marfan syndrome shows striking pleiotropism and clinical variability. The cardinal features occur in 3 systems--skeletal, ocular, and cardiovascular (McKusick, 1972; Pyeritz and McKusick, 1979; Pyeritz, 1993). It shares overlapping features with congenital contractural arachnodactyly (OMIM ), which is caused by mutation in the FBN2 gene (OMIM ).Gray and Davies (1996) gave a general review. They published Kaplan-Meier survival curves for a cohort of British Marfan syndrome patients demonstrating greater survivorship in females than in males; a similar result had been reported by Murdoch et al. (1972) and by Silverman et al. (1995). Gray and Davies (1996) also proposed a grading scale for clinical comparison of the Marfan syndrome patients. The authors provided criteria for each grade and suggested uniform use of these scales may facilitate clinicomolecular correlations.

MARFAN SYNDROME; MFS Is also known as marfan syndrome, type i|mfs1

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Micrognathia
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about MARFAN SYNDROME; MFS

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Other less relevant matches:

High match VICI SYNDROME


Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency.

VICI SYNDROME Is also known as immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum|corpus callosum agenesis-cataract-immunodeficiency syndrome|dionisi-vici-sabetta-gambarara syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about VICI SYNDROME

High match NOONAN SYNDROME 1; NS1


Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, facial dysmorphism, and a wide spectrum of congenital heart defects. The distinctive facial features consist of a broad forehead, hypertelorism, downslanting palpebral fissures, a high-arched palate, and low-set, posteriorly rotated ears. Cardiac involvement is present in up to 90% of patients. Pulmonic stenosis and hypertrophic cardiomyopathy are the most common forms of cardiac disease, but a variety of other lesions are also observed. Additional relatively frequent features include multiple skeletal defects (chest and spine deformities), webbed neck, mental retardation, cryptorchidism, and bleeding diathesis (summary by Tartaglia et al., 2002). Genetic Heterogeneity of Noonan SyndromeSee also NS3 (OMIM ), caused by mutation in the KRAS gene (OMIM ); NS4 (OMIM ), caused by mutation in the SOS1 gene (OMIM ); NS5 (OMIM ), caused by mutation in the RAF1 gene (OMIM ); NS6 (OMIM ), caused by mutation in the NRAS gene (OMIM ); NS7 (OMIM ), caused by mutation in the BRAF gene (OMIM ); NS8 (OMIM ), caused by mutation in the RIT1 gene (OMIM ); NS9 (OMIM ), caused by mutation in the SOS2 gene (OMIM ); and NS10 (OMIM ), caused by mutation in the LZTR1 gene (OMIM ).See also NS2 (OMIM ) for a possible autosomal recessive form of NS; Noonan syndrome-like disorder with loose anagen hair-1 (NSLH1 ), caused by mutation in the SHOC2 gene (OMIM ); Noonan syndrome-like disorder with loose anagen hair-2 (NSLH2 ), caused by mutation in the PPP1CB gene (OMIM ); and Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL ), caused by mutation in the CBL gene (OMIM ).Mutations in the neurofibromin gene (NF1 ), which is the site of mutations causing classic neurofibromatosis type I (NF1 ), have been found in neurofibromatosis-Noonan syndrome (NFNS ).

NOONAN SYNDROME 1; NS1 Is also known as female pseudo-turner syndrome|male turner syndrome|noonan syndrome|turner phenotype with normal karyotype

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 1; NS1

High 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

Medium match CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 27; CMH27


CMH27 is a severe, early-onset cardiomyopathy with morphologic features of both dilated and hypertrophic disease, characterized by biventricular involvement and atypical distribution of hypertrophy. Heterozygotes are at increased risk of developing cardiomyopathy (Almomani et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of hypertrophic cardiomyopathy, see CMH1 (OMIM ).An oligogenic form of hypertrophic cardiomyopathy, involving heterozygous mutations in the ALPK3, TTN (OMIM ), and MYL3 (OMIM ) genes has also been reported in 1 family.

Related symptoms:

  • Abnormal facial shape
  • Low-set ears
  • High palate
  • Cardiomyopathy
  • Edema


SOURCES: OMIM MENDELIAN

More info about CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 27; CMH27

Medium match MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE; MSMB


MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE; MSMB Is also known as myopathy, hyaline body, autosomal recessive

Related symptoms:

  • Short stature
  • Scoliosis
  • Muscle weakness
  • High palate
  • Skeletal muscle atrophy


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE; MSMB

Medium match CLASSIC MULTIMINICORE MYOPATHY


CLASSIC MULTIMINICORE MYOPATHY Is also known as classic multiminicore disease|classic mmd

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive
  • High palate


SOURCES: ORPHANET MENDELIAN

More info about CLASSIC MULTIMINICORE MYOPATHY

Top 5 symptoms//phenotypes associated to Congestive heart failure and High, narrow palate

Symptoms // Phenotype % cases
High palate Very Common - Between 80% and 100% cases
Cardiomyopathy Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Hypertrophic cardiomyopathy Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Congestive heart failure and High, narrow palate. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Growth delay

Uncommon Symptoms - Between 30% and 50% cases


Micrognathia Generalized hypotonia Global developmental delay Scoliosis Hernia Edema Pectus excavatum Cardiomegaly Feeding difficulties Abnormal facial shape Hypertelorism Depressed nasal bridge Nystagmus Epicanthus Long philtrum Dolichocephaly Abnormality of the cardiovascular system Decreased body weight Myopia Left ventricular hypertrophy Long face Anteverted nares Cataract Abnormality of cardiovascular system morphology Low-set ears Full cheeks Sparse hair Gastroesophageal reflux Constipation Splenomegaly Postnatal growth retardation Arrhythmia Dilatation Respiratory failure Failure to thrive Ptosis Sleep apnea Downslanted palpebral fissures Myopathy Pectus carinatum Muscle weakness Strabismus Kyphosis Dental malocclusion Heart murmur Proptosis Vomiting Redundant skin Seizures Hearing impairment Respiratory insufficiency Sensorineural hearing impairment Muscular hypotonia Depressivity Kyphoscoliosis Coarse facial features Joint laxity Abnormal heart valve morphology Ventricular hypertrophy Endocarditis Mitral valve prolapse Dilated cardiomyopathy Pulmonic stenosis Aortic regurgitation Microcephaly Poor suck Hepatomegaly Thick vermilion border Clinodactyly Atrial septal defect Short neck Pain Mitral regurgitation Frontal bossing Posteriorly rotated ears Abnormality of the skeletal system Abnormality of the dentition Sleep disturbance

Rare Symptoms - Less than 30% cases


Multiple lentigines Restrictive ventilatory defect Elbow flexion contracture Back pain Narrow palate Arnold-Chiari type I malformation Triangular face Large for gestational age Exotropia Open bite Joint hypermobility Amblyopia Narrow forehead Progressive neurologic deterioration Abnormal aortic valve morphology Neurofibromas Peripheral axonal neuropathy Open mouth Aspiration Aplasia/Hypoplasia of the corpus callosum Apnea Abnormality of the optic disc Neurodevelopmental delay Centrally nucleated skeletal muscle fibers Abnormal mitral valve morphology Pes planus Abnormality of the sternum Low posterior hairline Obstructive sleep apnea Abnormal heart morphology Joint stiffness Respiratory tract infection Feeding difficulties in infancy Abdominal pain Optic atrophy Ventriculomegaly Ventricular septal defect Polyhydramnios Thrombocytopenia Headache Pneumonia Recurrent respiratory infections Rod-cone dystrophy Cerebral cortical atrophy EEG abnormality Severe global developmental delay Cognitive impairment Cubitus valgus Abdominal distention Pulmonary edema Failure to thrive in infancy Pterygium Lymphedema Coarctation of aorta Webbed neck Abnormal bleeding Bruising susceptibility Cryptorchidism Hypotrichosis Delayed gross motor development Leukemia Abnormal cardiac septum morphology Low-set, posteriorly rotated ears Wide nose Neoplasm Hypertonia Stroke Glaucoma Pes cavus Everted lower lip vermilion Abnormality of skin pigmentation Dry skin Microdontia Hypotelorism Fine hair Genu valgum Abnormality of dental enamel Multiple joint contractures Cutis laxa Widely spaced teeth Bicuspid aortic valve Radial deviation of finger Umbilical hernia Protuberant abdomen Osteopenia Retinal dystrophy Craniosynostosis Inguinal hernia Striae distensae Dyspnea Thickened skin Broad forehead Chest pain Limb undergrowth Dental crowding Disproportionate tall stature Myocardial infarction Telecanthus Tricuspid valve prolapse Progressive visual loss Brachydactyly Wide nasal bridge Hip dysplasia Clinodactyly of the 5th finger High forehead Prominent forehead Right ventricular hypertrophy Behavioral abnormality Visual loss Incisional hernia Delayed speech and language development Flexion contracture Skeletal muscle atrophy Macrocephaly Abnormal diaphysis morphology Hydrocephalus Peripheral neuropathy Malar flattening Sagittal craniosynostosis Slow-growing hair Increased intracranial pressure Hyperammonemia Short mandibular rami Deformed humerus Urinary glycosaminoglycan excretion Enlarged vertebral pedicles Proximal tapering of metacarpals Seborrheic dermatitis Bullet-shaped phalanges of the hand Abnormality of the tympanic membrane Broad long bone diaphyses Abnormality of the wing of the ilium Spastic paraparesis Cervical kyphosis Cor pulmonale Hernia of the abdominal wall Recurrent upper respiratory tract infections Prominent supraorbital ridges Hemiplegia Language impairment Conical tooth Constrictive median neuropathy Increased size of nasopharyngeal adenoids Angina pectoris Hypoplasia of teeth Endocardial fibroelastosis Lumbar kyphosis Abnormal CNS myelination C1-C2 subluxation Broad ischia Flared iliac wings Flaring of rib cage Abnormality of lysosomal metabolism Delayed tarsal ossification Opacification of the corneal stroma Mandibular condyle hypoplasia Cervical subluxation Coxa vara Hypoplastic cervical vertebrae Enlarged tonsils Foam cells Abnormality of joint mobility Abnormality of the tonsils Calcification of falx cerebri Hypoplasia of the femoral head Abnormality of the pubic bone Cerebral palsy Abnormality of mucopolysaccharide metabolism Myelopathy Progressive hearing impairment Thick skull base Dermatan sulfate excretion in urine Corneal dystrophy Stridor Abnormality of peripheral nerve conduction Toe walking Chronic rhinitis Abnormal hand morphology Abnormality of the skull Abnormality of the clavicle Heparan sulfate excretion in urine Hip subluxation Gingivitis Atlantoaxial dislocation Abnormality of the gingiva J-shaped sella turcica Diastasis recti Dysostosis multiplex Abnormality of the respiratory system Prominent sternum Retinal fold Anterior rib cupping Tracheal stenosis Large sella turcica Biconcave vertebral bodies Flared nostrils Narrow pelvis bone Meckel diverticulum Anterior open bite Abnormal nerve conduction velocity Difficulty standing Sclerosis of skull base Mucopolysacchariduria Large face Enlargement of the wrists Recurrent lower respiratory tract infections Hypoplastic ilia Rhinitis Thoracolumbar kyphoscoliosis Metatarsus adductus Beaking of vertebral bodies Upper airway obstruction Flared metaphysis Calvarial hyperostosis Coronary artery atherosclerosis Thickened calvaria Arthropathy Spinal canal stenosis Rhinorrhea Cervical myelopathy Communicating hydrocephalus Recurrent ear infections Thoracic scoliosis Large earlobe Broad femoral neck Protruding tongue Short clavicles Hypoplasia of the odontoid process Palpebral edema Peripheral visual field loss Shallow orbits Delayed ossification of carpal bones Abnormality of the elbow Diaphyseal thickening Abnormality of the middle ear ossicles Abnormality of glycosaminoglycan metabolism Abnormality of the nail Stiff interphalangeal joints Optic nerve dysplasia Cavernous hemangioma Sparse or absent eyelashes Increased nuchal translucency Frontal balding Anterior creases of earlobe Abnormal tricuspid valve morphology Patchy alopecia Hypoplasia of the frontal lobes Excessive wrinkled skin Generalized ichthyosis Laryngeal cleft Functional abnormality of the gastrointestinal tract Tongue thrusting Hyperkeratosis pilaris Abnormality of the hairline Abnormal location of ears Puberty and gonadal disorders Abnormality of hair texture Abnormality of the pulmonary artery Cutaneous T-cell lymphoma Dystrophic fingernails Premature skin wrinkling Abnormality of the ulna Abnormality of the gastrointestinal tract Short attention span Woolly hair Thick upper lip vermilion Abnormal hair pattern Abnormality of the optic nerve Hyperextensibility of the finger joints Abnormality of the testis Delayed CNS myelination Abnormal myocardium morphology Abnormality of refraction Deep palmar crease Gastrointestinal dysmotility Thickened helices Subvalvular aortic stenosis Morphological abnormality of the gastrointestinal tract Inappropriate crying Absent eyelashes Spinal rigidity Scapuloperoneal weakness Mandibular prognathia Microretrognathia Poor head control Congenital muscular dystrophy High pitched voice Generalized amyotrophy Restrictive deficit on pulmonary function testing Scapuloperoneal amyotrophy Axial muscle weakness Muscle fiber atrophy Right ventricular failure Nocturnal hypoventilation Increased muscle lipid content Limited neck flexion Weakness of facial musculature Intermittent episodes of respiratory insufficiency due to muscle weakness Civatte bodies Reduced vital capacity Abnormality of the auditory canal Left ventricular noncompaction Multiple palmar creases Eyelid fasciculation Multiple plantar creases Oral aversion Hydrops fetalis Cardiac arrest Ventricular arrhythmia Tricuspid regurgitation Multiple pterygia Type 1 muscle fiber predominance Elevated serum creatine phosphokinase Proximal muscle weakness Lower limb muscle weakness Progressive muscle weakness Scapular winging EMG: myopathic abnormalities Myopathic facies Mildly elevated creatine phosphokinase Hypoplasia of the zygomatic bone Enlarged kidney Abnormal mandible coronoid process morphology Astigmatism Erythema Scarring Neurological speech impairment Pruritus Nail dystrophy Abnormality of the cerebral white matter Hypermetropia Ichthyosis Abnormality of the kidney Falls Bulbous nose Hepatic steatosis Palmoplantar keratoderma Nevus Vesicoureteral reflux Intestinal malrotation Premature birth Irritability Abnormality of the eye Hemiparesis Short nose Abnormality of premolar morphology Abnormal mandibular ramus morphology Delayed ossification of the hand bones Ataxia Dysarthria Dysphagia Intellectual disability, severe Blindness Cerebral atrophy Aggressive behavior Encephalopathy Delayed skeletal maturation Alopecia Hyperhidrosis Hyperkeratosis Autism Macrotia Hydronephrosis Growth hormone deficiency Inflammatory abnormality of the skin Abnormal eyelash morphology Multiple cafe-au-lait spots Obsessive-compulsive behavior Absent eyebrow Malnutrition Hydroureter Aplasia/Hypoplasia of the eyebrow Infantile spasms Long palpebral fissure Biparietal narrowing Melanocytic nevus Curly hair Generalized hyperpigmentation Submucous cleft hard palate Anal stenosis Underdeveloped supraorbital ridges Poor appetite Atopic dermatitis Alopecia of scalp Chronic otitis media Ectropion Cafe-au-lait spot Optic nerve hypoplasia Hyperpigmentation of the skin Cerebral visual impairment Generalized hirsutism Sparse eyelashes Oculomotor apraxia Abnormal palate morphology Hemangioma Abnormality of the genitourinary system Palmoplantar hyperkeratosis Pleural effusion Abnormality of vision Relative macrocephaly Hyperextensible skin Deep philtrum Brittle hair Bilateral ptosis Sparse eyebrow Scaling skin Coxa valga Elevated alkaline phosphatase Abnormal vertebral morphology Low back pain Arachnoid cyst Meningocele Thoracic kyphosis Genu recurvatum Aortic dissection Spondylolisthesis Homocystinuria Subarachnoid hemorrhage Pneumothorax Hypoplasia of the musculature Ascending tubular aorta aneurysm Overbite Thoracic aortic aneurysm Dural ectasia Hypoplasia of the iris Megalocornea Premature osteoarthritis Hammertoe Tall stature Narrow face Spontaneous abortion Ectopia lentis Aortic aneurysm Congenital contracture Epiphora Dilatation of the cerebral artery Rocker bottom foot Emphysema Decreased muscle mass Reduced subcutaneous adipose tissue Slender finger Aortic root aneurysm Protrusio acetabuli Hypopnea Overgrowth Congenital cataract Hypospadias Cerebellar hypoplasia Agenesis of corpus callosum Acidosis Muscular hypotonia of the trunk Cleft lip Cleft upper lip Immunodeficiency Polymicrogyria Pulmonary hypoplasia Neutropenia Hypopigmentation of the skin Sepsis Delayed myelination Recurrent infections Cerebellar atrophy Flat cornea Increased axial length of the globe Hypertropia Microspherophakia Cystic medial necrosis Spontaneous pneumothorax Overjet Anisometropia Pulmonary artery dilatation Respiratory distress Mitral annular calcification Medial rotation of the medial malleolus Inferior oblique muscle overaction Cleft palate Spasticity Motor delay Hyperreflexia Abnormal lung morphology Esotropia Cerebellar vermis hypoplasia Nephropathy Finger syndactyly Narrow chest Joint hyperflexibility Stage 5 chronic kidney disease Hepatic failure Short distal phalanx of finger Single transverse palmar crease Photophobia Hypodontia Ectodermal dysplasia Abnormality of the metaphysis Omphalocele Hypoplasia of dental enamel Rhizomelia Protruding ear Osteoporosis Short toe Convex nasal ridge Upslanted palpebral fissure Thin upper lip vermilion Intellectual disability, moderate Short philtrum Tachycardia Small hand Atrial fibrillation Renal insufficiency Thromboembolism Supraventricular tachycardia Asthenia Mastoiditis Bacterial endocarditis Quadricuspid aortic valve Reversed usual vertebral column curves Hepatic fibrosis Short ribs Polyneuropathy Broad distal phalanges of all fingers Thin nail Interstitial pneumonitis Short nail Tubulointerstitial abnormality Broad toe Renal magnesium wasting Malformation of the hepatic ductal plate Abnormality of the abdominal wall Retrognathia Deeply set eye Camptodactyly Hyperlordosis Arachnodactyly Retinal detachment Flattened epiphysis Hepatic cysts Hypocalcemia Prominent occiput Abnormality of the fingernails Chronic kidney disease Cupped ear Abnormality of dental morphology Thoracic hypoplasia Short thorax High hypermetropia Abnormal toenail morphology Short humerus Fibular hypoplasia Scaphocephaly Taurodontia Tubulointerstitial nephritis Anodontia Elevated serum creatinine Decreased antibody level in blood Heterotopia Gingival overgrowth Gonadal neoplasm Reduced factor XII activity Neurofibrosarcoma Panuveitis Juvenile myelomonocytic leukemia Loose anagen hair Pectus excavatum of inferior sternum Reduced factor XIII activity Amegakaryocytic thrombocytopenia Nasogastric tube feeding Preductal coarctation of the aorta Postductal coarctation of the aorta Hypertension Diarrhea Skeletal dysplasia Superior pectus carinatum Hypoplastic aortic arch Elevated hepatic transaminase Nonimmune hydrops fetalis Abnormality of the vertebral column Neuroblastoma Abnormality of blood and blood-forming tissues Gonadal dysgenesis Malignant hyperthermia Drusen Atrial flutter Lymphangioma Restrictive cardiomyopathy Shield chest Synovitis Schwannoma Asymmetry of the thorax Optic disc hypoplasia Hepatosplenomegaly Conductive hearing impairment Cystic hygroma Hypertrichosis Limitation of joint mobility Abnormality of the skin Abnormality of the ribs Lumbar hyperlordosis Intellectual disability, profound Interphalangeal joint contracture of finger Recurrent otitis media Broad nasal tip Split hand Abnormal form of the vertebral bodies Encephalocele Chronic diarrhea Long eyelashes Abnormality of epiphysis morphology Asthma Macroglossia Mental deterioration Corneal opacity Pallor Wide mouth Retinopathy Camptodactyly of finger Abnormal pyramidal sign Nyctalopia Carious teeth Delayed eruption of teeth Synophrys Abnormality of eye movement Retinal degeneration Thick eyebrow Hirsutism Inability to walk Neurodegeneration Male infertility Abnormality of color vision Abnormality of retinal pigmentation Hypoplasia of the pons Aspiration pneumonia Severe failure to thrive Depressed nasal tip Ocular albinism Renal tubular dysfunction Fair hair Chronic mucocutaneous candidiasis Severe sensorineural hearing impairment Abnormal cortical gyration Recurrent viral infections Hypoplasia of the thymus Cellular immunodeficiency Hypopigmentation of the fundus Recurrent fungal infections IgG deficiency Hypopigmentation of hair Granulocytopenia Infantile muscular hypotonia Decreased liver function Progressive microcephaly Lymphopenia Increased body weight Recurrent bacterial infections Leukopenia Adducted thumb Optic neuropathy Congenital sensorineural hearing impairment Albinism Combined immunodeficiency Macular atrophy Bronchitis Renal tubular acidosis Abnormality of immune system physiology Abnormal posturing Pontocerebellar atrophy Leukocytosis Primary amenorrhea Intellectual disability, mild Patent ductus arteriosus Hypogonadism Facial asymmetry Wide intermamillary distance Amenorrhea Clumsiness Acute bronchitis Plagiocephaly Azoospermia Arnold-Chiari malformation Patent foramen ovale Myelodysplasia Abnormality of the coagulation cascade Fever White matter neuronal heterotopia Abnormality of the mandible Schizencephaly Decreased proportion of CD4-positive T cells Recurrent aspiration pneumonia Abnormality of the thymus Abnormality of the cerebellar vermis Muscle flaccidity Abnormal macular morphology Frontoparietal polymicrogyria Severe T-cell immunodeficiency Abnormal immunoglobulin level Cutaneous anergy Decreased T cell activation Aplasia/Hypoplasia of the macula Ureteral atresia Immunoglobulin IgG2 deficiency Penile hypospadias Absent muscle fiber merosin



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