Cardiomyopathy, and Joint hypermobility

Diseases related with Cardiomyopathy and Joint hypermobility

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


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Low match EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC AND DEAFNESS TYPE


Ehlers-Danlos syndrome, kyphoscoliotic and deafness type is a form of Ehlers-Danlos syndrome, characterized by severe generalized hypotonia at birth with severe early-onset kyphoscolosis along with joint hypermobility (without contractures) leading to recurrent dislocations, and sensorineural hearing impairment.

EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC AND DEAFNESS TYPE Is also known as ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss|ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness|edskmh|eds with progressive kyphoscoliosis, myopathy, and deafness|eds, kyphoscoliotic and he

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC AND DEAFNESS TYPE

Low match COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1


Primary CoQ10 deficiency is a rare, clinically heterogeneous autosomal recessive disorder caused by mutation in any of the genes encoding proteins directly involved in the synthesis of coenzyme Q (review by Quinzii and Hirano, 2011). Coenzyme Q10 (CoQ10), or ubiquinone, is a mobile lipophilic electron carrier critical for electron transfer by the mitochondrial inner membrane respiratory chain (Duncan et al., 2009).The disorder has been associated with 5 major phenotypes, but the molecular basis has not been determined in most patients with the disorder and there are no clear genotype/phenotype correlations. The phenotypes include an encephalomyopathic form with seizures and ataxia (Ogasahara et al., 1989); a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure (Rotig et al., 2000); a predominantly cerebellar form with ataxia and cerebellar atrophy (Lamperti et al., 2003); Leigh syndrome with growth retardation (van Maldergem et al., 2002); and an isolated myopathic form (Lalani et al., 2005). The correct diagnosis is important because some patients may show a favorable response to CoQ10 treatment. Genetic Heterogeneity of Primary Coenzyme Q10 DeficiencySee also COQ10D2 (OMIM ), caused by mutation in the PDSS1 gene (OMIM ) on chromosome 10p12; COQ10D3 (OMIM ), caused by mutation in the PDSS2 gene (OMIM ) on chromosome 6q21; COQ10D4 (OMIM ), caused by mutation in the COQ8 gene (ADCK3 ) on chromosome 1q42; COQ10D5 (OMIM ), caused by mutation in the COQ9 gene (OMIM ) on chromosome 16q21; COQ10D6 (OMIM ), caused by mutation in the COQ6 gene (OMIM ) on chromosome 14q24; COQ10D7 (OMIM ), caused by mutation in the COQ4 gene (OMIM ) on chromosome 9q34; and COQ10D8 (OMIM ), caused by mutation in the COQ7 gene (OMIM ) on chromosome 16p13.Secondary CoQ10 deficiency has been reported in association with glutaric aciduria type IIC (MADD ), caused by mutation in the ETFDH gene (OMIM ) on chromosome 4q, and with ataxia-oculomotor apraxia syndrome-1 (AOA1 ), caused by mutation in the APTX gene (OMIM ) on chromosome 9p13.

COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1 Is also known as ubiquinone deficiency 1|coq10 deficiency, primary, 1|coq deficiency 1|coenzyme q deficiency 1

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1

Low match PSEUDOXANTHOMA ELASTICUM


Pseudoxanthoma elasticum (PXE) is an inherited connective tissue disorder characterized by progressive calcification and fragmentation of elastic fibers in the skin, retina, and arterial walls.

PSEUDOXANTHOMA ELASTICUM Is also known as pxe|gronblad-strandberg-touraine syndrome|gronblad-strandberg syndrome

Related symptoms:

  • Scoliosis
  • Growth delay
  • High palate
  • Visual impairment
  • Hypertension


SOURCES: ORPHANET OMIM MENDELIAN

More info about PSEUDOXANTHOMA ELASTICUM

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Low match ARTERIAL TORTUOSITY SYNDROME


Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries.

ARTERIAL TORTUOSITY SYNDROME Is also known as ats

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about ARTERIAL TORTUOSITY SYNDROME

Low match TIMOTHY SYNDROME


Timothy syndrome is a multi-system disorder characterized by cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders.

TIMOTHY SYNDROME Is also known as lqt8|long qt syndrome 8|long qt syndrome with syndactyly|long qt syndrome-syndactyly syndrome|long qt syndrome type 8

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about TIMOTHY SYNDROME

Low match NOONAN SYNDROME WITH MULTIPLE LENTIGINES


Noonan syndrome with multiple lentigines (NSML), previously known as LEOPARD syndrome, is a rare multisystem genetic disorder characterized by lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features.

NOONAN SYNDROME WITH MULTIPLE LENTIGINES Is also known as leopard syndrome|cardiomyopathic lentiginosis|familial multiple lentigines syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about NOONAN SYNDROME WITH MULTIPLE LENTIGINES

Low 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

Low match MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD


Glutaric aciduria II (GA2) is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It differs from GA I (GA1 ) in that multiple acyl-CoA dehydrogenase deficiencies result in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. GA II results from deficiency of any 1 of 3 molecules: the alpha (ETFA) and beta (ETFB) subunits of electron transfer flavoprotein, and electron transfer flavoprotein dehydrogenase (ETFDH). The clinical picture of GA II due to the different defects appears to be indistinguishable; each defect can lead to a range of mild or severe cases, depending presumably on the location and nature of the intragenic lesion, i.e., mutation, in each case (Goodman, 1993; Olsen et al., 2003).The heterogeneous clinical features of patients with MADD fall into 3 classes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal and are characterized by severe nonketotic hypoglycemia, metabolic acidosis, multisystem involvement, and excretion of large amounts of fatty acid- and amino acid-derived metabolites. Symptoms and age at presentation of late-onset MADD are highly variable and characterized by recurrent episodes of lethargy, vomiting, hypoglycemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occurs. The organic aciduria in patients with the late-onset form of MADD is often intermittent and only evident during periods of illness or catabolic stress (summary by Frerman and Goodman, 2001).Importantly, riboflavin treatment has been shown to ameliorate the symptoms and metabolic profiles in many MADD patients, particularly those with type III, the late-onset and mildest form (Liang et al., 2009).

MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD Is also known as ema|ethylmalonic-adipicaciduria|glutaric aciduria ii|ga ii|glutaric acidemia ii|ga2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD

Low match NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA


Noonan syndrome-like disorder with juvenile myelomonocytic leukemia is a rare, genetic, polymalformative syndrome with increased risk of developing cancer characterized by a Noonan-like phenotype, including typical dysmorphic facial features (i.e. high forehead, hypertelorism, downslanting palpebral fissures, ptosis, low-set ears, prominent philtrum and short neck with or without pterygium colli), thoracic abnormalities, congenital heart defects and short stature, associated with a very frequent ocurrence of juvenile myelomonocytic leukemia. Developmental delay, ectodermal anomalies, joint laxity, and hypotonia may also be associated.

NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA Is also known as cbl mutation-associated syndrome|noonan syndrome-like disorder with jmml|cbl syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA

Low match BECKWITH-WIEDEMANN SYNDROME; BWS


Beckwith-Wiedemann syndrome is a pediatric overgrowth disorder involving a predisposition to tumor development. The clinical presentation is highly variable; some cases lack the hallmark features of exomphalos, macroglossia, and gigantism as originally described by Beckwith (1969) and Wiedemann (1969) (summary by Weksberg et al., 2010).Mussa et al. (2016) provided a review of Beckwith-Wiedemann syndrome, including the wide spectrum of phenotypic manifestations, delineation of the frequencies of manifestations according to genotype, and discussion of the molecular and epigenetic defects that underlie the disorder.

BECKWITH-WIEDEMANN SYNDROME; BWS Is also known as emg syndrome|exomphalos-macroglossia-gigantism syndrome|wiedemann-beckwith syndrome|wbs

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about BECKWITH-WIEDEMANN SYNDROME; BWS

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Joint hypermobility

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Muscular hypotonia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cardiomyopathy and Joint hypermobility. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases


Hyperextensible skin Joint hyperflexibility Seizures Hearing impairment Respiratory distress Hypertrophic cardiomyopathy Macrocephaly Myopia Hypertelorism Hypertension Depressed nasal bridge Edema Respiratory failure Strabismus Cognitive impairment Growth delay Dilatation Congestive heart failure Abnormality of cardiovascular system morphology Sensorineural hearing impairment Myopathy Gait disturbance Motor delay Patent ductus arteriosus Gastroesophageal reflux Intellectual disability, mild Posteriorly rotated ears Dyspnea Macrotia Umbilical hernia Thick vermilion border Hypoglycemia Encephalopathy Failure to thrive Inguinal hernia Cataract Fatigue Cardiac arrest Low-set ears Cryptorchidism Wide nasal bridge Hernia Muscle weakness Postural instability Intrauterine growth retardation Arrhythmia Myocardial infarction Cardiomegaly Elevated serum creatine phosphokinase Polyhydramnios Bruising susceptibility Hepatomegaly Specific learning disability Hypothyroidism

Rare Symptoms - Less than 30% cases


Polycystic kidney dysplasia Behavioral abnormality Dysphagia Depressivity Hip dislocation Cardiorespiratory arrest Telangiectasia of the skin Sudden cardiac death Atrial septal defect Mitral valve prolapse Mitral regurgitation Subcutaneous nodule Nephrocalcinosis Redundant skin Abnormality of the thorax Redundant neck skin Aortic root aneurysm Abnormal mitral valve morphology Arterial stenosis Excessive wrinkled skin Abnormal endocardium morphology Renal cortical cysts Ketosis Short nose Dilated cardiomyopathy Hip dysplasia Abnormal heart morphology Large for gestational age Prominent forehead Pain Scapular winging Spina bifida occulta Abnormality of the ear Neuroblastoma Downslanted palpebral fissures Splenomegaly Polydactyly Coarse facial features Hepatosplenomegaly Left ventricular hypertrophy Wide mouth Broad forehead Congenital cataract Macroglossia Overgrowth Nephrolithiasis Accelerated skeletal maturation Growth abnormality Cafe-au-lait spot Abnormality of the genital system Coma Pectus excavatum Esotropia Tetralogy of Fallot Abnormality of the face Ventricular fibrillation Protruding tongue Short stature Ptosis Short neck Abnormality of the kidney Webbed neck Pectus carinatum Renal cyst Pulmonic stenosis Pulmonary hypoplasia High forehead Triangular face Respiratory insufficiency Feeding difficulties Nevus Low-set, posteriorly rotated ears Mandibular prognathia Abnormality of the foot Myoclonus Cutis laxa Poor head control Easy fatigability Poor suck Acidosis Difficulty climbing stairs Myoglobinuria Hyperkeratosis Skeletal muscle atrophy Bilateral sensorineural hearing impairment Visual loss Renal insufficiency Exercise intolerance Ragged-red muscle fibers Failure to thrive in infancy Optic atrophy Lactic acidosis Dysarthria Spasticity Epicanthus Ataxia Glutaric aciduria Scarring High palate Blue sclerae Aciduria Muscle cramps Stroke Waddling gait Metabolic acidosis Reduced protein C activity Ketonuria Progressive proximal muscle weakness Ketotic hypoglycemia Drowsiness Fatigable weakness Elevated plasma acylcarnitine levels Cataplexy Acute kidney injury Rhabdomyolysis Excessive daytime somnolence Reye syndrome-like episodes Ethylmalonic aciduria Restrictive ventilatory defect Hypersarcosinemia Stridor Hemiplegia Fatigable weakness of distal limb muscles Glycosuria Hypoketotic hypoglycemia Chronic fatigue Back pain Narcolepsy Limb tremor Gastrointestinal inflammation Impaired mastication Nonketotic hypoglycemia Hypoglycemic coma Personality disorder Arthralgia of the hip Progressive spastic quadriplegia Glutaric acidemia Generalized aminoaciduria Organic aciduria Respiratory arrest Acute pancreatitis Loss of ability to walk Abnormal corpus callosum morphology Abnormality of the renal tubule Episodic vomiting Proximal tubulopathy Medulloblastoma Exercise-induced myalgia Increased muscle lipid content Oliguria Type I diabetes mellitus Talipes equinovarus Muscular dystrophy Difficulty walking Jaundice Arthralgia Osteopenia Weight loss Gait ataxia Areflexia Headache Diarrhea Vomiting Pes planus Tremor Fever Mesiodens Proximal muscle weakness Short distal phalanx of toe Prominent eyelashes Aortic arch aneurysm Everted upper lip vermilion Generalized hypertrichosis Biliary atresia Cavernous hemangioma Hyperextensibility of the finger joints Gingival fibromatosis Long penis Colpocephaly Thin bony cortex Dystrophic fingernails Elevated hepatic transaminase Myalgia Slurred speech Increased serum lactate Mutism Hyperammonemia Spastic tetraparesis Pancreatitis Clonus Leukodystrophy Decreased liver function Wide anterior fontanel Anorexia Renal dysplasia Heterotopia Pachygyria Tetraparesis Gliosis Telecanthus Generalized muscle weakness Tetraplegia Hepatic steatosis Kyphoscoliosis Nausea Limb muscle weakness Nausea and vomiting Abnormality of the cerebral white matter Lethargy Abnormality of the liver Respiratory tract infection Abnormality of the pinna Hyperlordosis Fatigable weakness of neck muscles Reduced visual acuity Abnormality of branched chain family amino acid metabolism Abnormality of the outer ear Foot polydactyly Protuberant abdomen Aniridia Prominent metopic ridge Congenital hypothyroidism Hamartoma Broad palm Tibial bowing Prominent occiput Large hands Nephroblastoma Hypercalciuria Prominent supraorbital ridges Large fontanelles Nevus flammeus Recurrent urinary tract infections Omphalocele Dandy-Walker malformation Vesicoureteral reflux Abdominal distention Postaxial polydactyly Attention deficit hyperactivity disorder Intellectual disability, moderate Hydronephrosis Carcinoma Conductive hearing impairment Proptosis Hyperactivity Midface retrusion Enlarged kidney Neonatal hypoglycemia Neoplasm Flank pain Pancreatoblastoma Fibrous hamartoma Pancreatic hyperplasia Overgrowth of external genitalia Adrenocortical cytomegaly Vitreomacular adhesion Nephroblastomatosis Thymus hyperplasia Abdominal mass Opsoclonus Posterior helix pit Ganglioneuroma Adrenocortical carcinoma Prune belly Diastasis recti Embryonal neoplasm Hepatoblastoma Abdominal wall defect Teratoma Diaphragmatic eventration Unilateral cryptorchidism Rhabdomyosarcoma Abnormality of the tongue Pancreatic cysts Visceromegaly Hypoplasia of the thymus Gonadoblastoma Hemihypertrophy Nonimmune hydrops fetalis Cleft palate Abnormality of the subarachnoid space Defective dehydrogenation of isovaleryl CoA and butyryl CoA Hypermetropia Lymphedema Hyperpigmentation of the skin Fine hair Low posterior hairline Epistaxis Cyanosis Wide intermamillary distance Lymphoma Abnormal bleeding Ascites Highly arched eyebrow Falls Astigmatism Leukemia Aortic valve stenosis Sparse hair Postnatal growth retardation Feeding difficulties in infancy Joint laxity Thrombocytopenia Long philtrum Flexion contracture Anteverted nares Frontal bossing Delayed speech and language development Broad ribs Abnormality of blood glucose concentration Electron transfer flavoprotein-ubiquinone oxidoreductase defect Hepatic periportal necrosis Hydrops fetalis Bilateral single transverse palmar creases Reduced factor X activity B-cell lymphoma Reduced prothrombin activity Juvenile myelomonocytic leukemia Reduced factor XII activity Hypoplasia of olfactory tract Reduced factor IX activity Abnormality of the mediastinum Arteritis Pulmonary lymphangiectasia Monocytosis Broad toe Prominent fingertip pads Chylothorax Hypochromic microcytic anemia Abnormality of the spleen Short attention span Vasculitis Hydrocele testis Facial hypotonia Abnormal eyebrow morphology Neurodevelopmental delay Decreased muscle mass Proximal placement of thumb Overfolded helix Cubitus valgus Pleural effusion Bilateral ptosis Cholelithiasis Deep philtrum Bicuspid aortic valve Torticollis Microcephaly Thick lower lip vermilion Pericardial effusion Glomerulonephritis Thin skin Short palpebral fissure Progressive muscle weakness Long face Arachnodactyly Hypergonadotropic hypogonadism Blepharophimosis Craniosynostosis Oculomotor apraxia Clinodactyly of the 5th finger Malar flattening Glomerulosclerosis Ophthalmoparesis Coxa valga Focal segmental glomerulosclerosis Medial calcification of small arteries Abnormal atrioventricular valve morphology Medial calcification of medium-sized arteries Premature occlusive vascular stenosis Erythematous papule Subretinal fluid Peau d'orange Peripapillary chorioretinal atrophy Medial calcification of large arteries Generalized arterial calcification Localized skin lesion Hyperkeratotic papule Progressive neurologic deterioration Coxa vara Subcutaneous calcification Median cleft lip and palate Recurrent infections Immunodeficiency Syndactyly Abnormality of the dentition Ventricular septal defect Memory impairment Nephrotic syndrome Apraxia Abnormality of the zygomatic bone Abnormal carotid artery morphology Keratoglobus Long palm Femoral hernia Pyloric stenosis Avascular necrosis of the capital femoral epiphysis Abnormal myocardium morphology Myocarditis Esophagitis Aortic dissection Pancytopenia Hiatus hernia Pulmonary artery stenosis Status epilepticus Prematurely aged appearance Keratoconus Rocker bottom foot Aortic aneurysm Arterial calcification Vascular calcification Constipation Macular degeneration Chorioretinal atrophy Abnormal retinal morphology Hypermelanotic macule Coronary artery atherosclerosis Cutis marmorata Hemiplegia/hemiparesis Tricuspid regurgitation Acne Intracranial hemorrhage Recurrent myoglobinuria Ischemic stroke Atherosclerosis Exercise-induced myoglobinuria Steroid-resistant nephrotic syndrome Rapid neurologic deterioration Crescentic glomerulonephritis Visual impairment Abnormality of the cardiovascular system Cerebral calcification Abnormality of the skin Gastrointestinal hemorrhage Blindness Abnormality of skin pigmentation Pruritus Papule Small for gestational age Skin rash Multiple lipomas Striae distensae Accelerated atherosclerosis Arteriosclerosis Civatte bodies Abnormality of connective tissue Renovascular hypertension Metamorphopsia Angioid streaks of the fundus Intermittent claudication Retinal hemorrhage Generalized amyotrophy Choroidal neovascularization Ectopic calcification Pulmonary insufficiency Glomerulopathy Pulmonary edema Severe vision loss Tubular atrophy Abnormal thrombocyte morphology Scanning speech Restrictive cardiomyopathy Lack of skin elasticity Angina pectoris Peripheral arterial stenosis Abnormality of the cerebral vasculature Mitral stenosis Drusen Thickened nuchal skin fold Abnormality of the mouth Severe intrauterine growth retardation Progressive cerebellar ataxia Pneumonia Anonychia Curly hair Abnormal pulmonary valve morphology Multiple lentigines Abnormality of the pulmonary artery Abnormal localization of kidney Abnormal aortic valve morphology Shield chest Aplasia/Hypoplasia of the abdominal wall musculature Wolff-Parkinson-White syndrome Right ventricular hypertrophy Premature skin wrinkling Sprengel anomaly Severe sensorineural hearing impairment Soft skin Numerous nevi Multiple cafe-au-lait spots Freckling Atrioventricular canal defect Decreased fertility Follicular hyperkeratosis External genital hypoplasia Bundle branch block Bilateral cryptorchidism Melanocytic nevus Abnormality of the voice Myelodysplasia Melanoma Cleft soft palate Hypoplasia of the ovary Atrophic scars Keloids Intellectual disability, profound Metaphyseal widening Microcornea Hemangioma Intellectual disability, progressive Hemivertebrae Generalized hirsutism Gingival overgrowth Thickened skin Sloping forehead Hypertrichosis Retinopathy Small nail Hypotelorism Brachydactyly Delayed eruption of teeth Hirsutism Short distal phalanx of finger Thick eyebrow Bulbous nose Synophrys Severe muscular hypotonia Protruding ear Increased susceptibility to fractures Congenital muscular dystrophy Disproportionate tall stature Intellectual disability, severe Abnormality of the skeletal system Bladder diverticulum High-frequency sensorineural hearing impairment Nephropathy Proteinuria Obsessive-compulsive behavior Patent foramen ovale Atrioventricular block Optic nerve hypoplasia Ventricular arrhythmia Cutaneous syndactyly Ventricular tachycardia Abnormality of dental enamel Hypocalcemia Bradycardia Sinusitis Hypoplasia of dental enamel Pulmonary arterial hypertension Multiple joint contractures Muscular hypotonia of the trunk Abnormal pyramidal sign Microdontia Round face Syncope Hypoplasia of the maxilla Toe syndactyly Carious teeth Abnormal cardiac septum morphology Autistic behavior Hepatic failure Thin upper lip vermilion Autism 2-3 toe syndactyly Prolonged QT interval Arterial rupture Rod-cone dystrophy Abnormal eye morphology Aortic rupture Nystagmus Delayed puberty Anemia Hyperreflexia Neonatal hypotonia Brachycephaly Cerebellar atrophy Delayed skeletal maturation Hypospadias Cerebral atrophy Abnormal direction of ventricular apex Mixed hearing impairment Atrioventricular dissociation T-wave alternans Abnormality of dental color Frontal balding Biventricular hypertrophy Cutaneous syndactyly of toes Torsade de pointes Perimembranous ventricular septal defect Hypothermia Amelogenesis imperfecta Hypogonadism Cutaneous finger syndactyly Bronchitis Congenital mesoblastic nephroma



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