Myopathy, and Small nail

Diseases related with Myopathy and Small nail

In the following list you will find some of the most common rare diseases related to Myopathy and Small nail that can help you solving undiagnosed cases.


Top matches:

Medium match NON-ACQUIRED COMBINED PITUITARY HORMONE DEFICIENCY-SENSORINEURAL HEARING LOSS-SPINE ABNORMALITIES SYNDROME


Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome is a rare, genetic, non-acquired, combined pituitary hormone deficiency disorder characterized by panhypopituitarism (with or without ACTH deficiency) associated with spine abnormalities, including frequent rigid cervical spine and short neck with limited rotation, and variable degrees of sensorineural hearing loss. The anterior pituitary gland is usually abnormal (typically hypoplastic) and rarely a mild developmental delay or intellectual disability may be associated.

NON-ACQUIRED COMBINED PITUITARY HORMONE DEFICIENCY-SENSORINEURAL HEARING LOSS-SPINE ABNORMALITIES SYNDROME Is also known as deafness, sensorineural, with pituitary dwarfism|non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome|pituitary hormone deficiency, combined, with rigid cervical spine

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about NON-ACQUIRED COMBINED PITUITARY HORMONE DEFICIENCY-SENSORINEURAL HEARING LOSS-SPINE ABNORMALITIES SYNDROME

Medium match ADAMS-OLIVER SYNDROME 5; AOS5


Adams-Oliver syndrome (AOS) is a rare developmental disorder defined by the combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly). In addition, vascular anomalies such as cutis marmorata telangiectatica congenita, pulmonary hypertension, portal hypertension, and retinal hypervascularization are recurrently seen. Congenital heart defects have been estimated to be present in 20% of AOS patients; reported malformations include ventricular septal defects, anomalies of the great arteries and their valves, and tetralogy of Fallot (summary by Stittrich et al., 2014).For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Muscle weakness
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME 5; AOS5

Medium match EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY


Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering associated with muscular dystrophy.

EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY Is also known as epidermolysis bullosa simplex and limb-girdle muscular dystrophy|md-ebs|ebs-md|mdebs|limb-girdle muscular dystrophy with epidermolysis bullosa simplex

Related symptoms:

  • Short stature
  • Growth delay
  • Muscle weakness
  • Ptosis
  • Anemia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY

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Other less relevant matches:

Low match COSTELLO SYNDROME


Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors.

COSTELLO SYNDROME Is also known as fcs syndrome|faciocutaneoskeletal syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COSTELLO SYNDROME

Low match WILLIAMS SYNDROME


Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)

WILLIAMS SYNDROME Is also known as deletion 7q11.23|williams syndrome|williams-beuren syndrome|chromosome 7q11.23 deletion syndrome, 1.5- to 1.8-mb|wms|monosomy 7q11.23|ws

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about WILLIAMS SYNDROME

Low match VISCERAL MYOPATHY; VSCM


Familial visceral myopathy is a rare inherited form of myopathic pseudoobstruction, characterized by impaired function of enteric smooth muscle cells resulting in abnormal intestinal mobility, severe abdominal pain, malnutrition, and even death (Lehtonen et al., 2012). Visceral myopathy represents a phenotypic spectrum of disease characterized by inter- and intrafamilial variability, in which the most severely affected patients exhibit prenatal bladder enlargement, intestinal malrotation, neonatal functional gastrointestinal obstruction, and chronic dependence on total parenteral nutrition (TPN) and urinary catheterization (summary by Wangler et al., 2014).Another form of visceral myopathy with functional gastrointestinal obstruction is associated with external ophthalmoplegia (OMIM ).Functional gastrointestinal obstruction also occurs in association with other abnormalities, such as 'prune belly' syndrome (OMIM ) and Barrett esophagus (Mungan syndrome; {611376}). Chronic intestinal pseudoobstruction can also be neuropathic in origin (see {609629}).

VISCERAL MYOPATHY; VSCM Is also known as megacystis-microcolon-intestinal hypoperistalsis syndrome|infantile visceral myopathy|mmih|megaduodenum and/or megacystis|pseudoobstruction, idiopathic intestinal|berdon syndrome

Related symptoms:

  • Microcephaly
  • Failure to thrive
  • Micrognathia
  • Cleft palate
  • Pain


SOURCES: OMIM MENDELIAN

More info about VISCERAL MYOPATHY; VSCM

Low match INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME


Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.

INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME Is also known as primrose syndrome|ossified ear cartilages with mental deficiency, muscle wasting, and bony changes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME

Low match DISTAL MYOPATHY, WELANDER TYPE


Distal myopathy, Welander type (WDM) is a distal myopathy characterized by weakness in the distal upper extremities, usually finger and wrist extensors which later progresses to all hand muscles and distal lower extremity, primarily in toe and ankle extensors.

DISTAL MYOPATHY, WELANDER TYPE Is also known as wdm

Related symptoms:

  • Myopathy


SOURCES: ORPHANET MENDELIAN

More info about DISTAL MYOPATHY, WELANDER TYPE

Low match COMBINED IMMUNODEFICIENCY DUE TO STIM1 DEFICIENCY


Combined immunodeficiency (CID) due to STIM1 deficiency is a form of CID due to Calcium release activated Ca2+(CRAC) channel dysfunction (see this term) characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia.

COMBINED IMMUNODEFICIENCY DUE TO STIM1 DEFICIENCY Is also known as cid due to stim1 deficiency|immune dysfunction with t-cell inactivation due to calcium entry defect 2|stim1 deficiency

Related symptoms:

  • Generalized hypotonia
  • Muscular hypotonia
  • Anemia
  • Myopathy
  • Diarrhea


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO STIM1 DEFICIENCY

Low match HEREDITARY FIBROSING POIKILODERMA-TENDON CONTRACTURES-MYOPATHY-PULMONARY FIBROSIS SYNDROME


Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome is a rare, genetic, hereditary poikiloderma syndrome characterized by early-onset poikiloderma (mainly on the face), hypotrichosis, hypohidrosis, muscle and tendon contractures with varus foot deformity, progressive proximal and distal muscle weakness in all extremities, and progressive pulmonary fibrosis. Mild lymphedema of the extremities, growth retardation, liver impairment, exocrine pancreatic insufficiency and hematologic abnormalities are additional variable features.

HEREDITARY FIBROSING POIKILODERMA-TENDON CONTRACTURES-MYOPATHY-PULMONARY FIBROSIS SYNDROME Is also known as poiktmp syndrome|poikiloderma, hereditary sclerosing, with tendon and pulmonary involvement

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Cataract
  • Flexion contracture
  • Hepatomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEREDITARY FIBROSING POIKILODERMA-TENDON CONTRACTURES-MYOPATHY-PULMONARY FIBROSIS SYNDROME

Top 5 symptoms//phenotypes associated to Myopathy and Small nail

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Hypertension Uncommon - Between 30% and 50% cases
Abnormality of dental enamel Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Myopathy and Small nail. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Seizures Micrognathia Cryptorchidism Pneumonia Global developmental delay Scoliosis Ptosis Growth delay Failure to thrive Gait disturbance Muscle weakness Pectus excavatum Osteoporosis Hernia Abnormal heart morphology Inguinal hernia Umbilical hernia Cataract Flexion contracture Low-set, posteriorly rotated ears Pulmonic stenosis Hypoplasia of dental enamel Hip dysplasia Anemia Ventricular hypertrophy Osteopenia Portal hypertension Thick lower lip vermilion Elevated serum creatine phosphokinase Nail dysplasia Ventricular septal defect Abnormality of the skeletal system Anteverted nares Skeletal muscle atrophy Hearing impairment Abnormal facial shape Intellectual disability, mild Delayed speech and language development Macrocephaly Broad forehead Muscular hypotonia Kyphosis Carious teeth

Rare Symptoms - Less than 30% cases


Hypertrophic cardiomyopathy Abnormality of cardiovascular system morphology Feeding difficulties Coarse facial features Cognitive impairment Feeding difficulties in infancy Joint laxity Intellectual disability, moderate Irritability Wide mouth Delayed puberty Joint hyperflexibility Kyphoscoliosis Polyhydramnios Gastroesophageal reflux Atrial septal defect Long philtrum Absent speech Short nose Sleep disturbance Delayed skeletal maturation Pes cavus Abnormality of the dentition Hyperhidrosis Hydrocephalus Depressed nasal bridge Dysphagia Hypogonadism Downslanted palpebral fissures Myopia Dysarthria Cerebral cortical atrophy Hepatomegaly Renal insufficiency Epicanthus Thick vermilion border Failure to thrive in infancy Postural instability Recurrent urinary tract infections Abdominal pain Autism Hypothyroidism Macrotia Developmental regression Protruding ear Joint stiffness Genu valgum Vesicoureteral reflux Otitis media Abnormal form of the vertebral bodies Schizophrenia Constipation Restlessness Poor coordination Chronic constipation Abnormal glucose tolerance Peripheral neuropathy Diarrhea Prominent nasal bridge Narrow chest Anonychia Truncal obesity Hypohidrosis Diabetes mellitus Obesity Macroglossia Arnold-Chiari malformation Full cheeks Nevus Overgrowth Eczema Mitral valve prolapse Hoarse voice Pointed chin Abnormality of the fingernails Cutis laxa Abnormal dermatoglyphics Infantile muscular hypotonia Redundant skin Midface retrusion Bilateral cryptorchidism Hypoplastic toenails Arnold-Chiari type I malformation Soft skin Large earlobe Achilles tendon contracture Microcephaly Ataxia Cleft palate Hypertonia Behavioral abnormality Malar flattening Strabismus Pain Neoplasm Alopecia Severe short stature Tachycardia Ophthalmoplegia Hyperextensible skin Papule Scarring Increased body weight Right ventricular hypertrophy Ischemic stroke Cardiomyopathy Growth hormone deficiency Motor delay Short neck Congestive heart failure Ascites Abnormal cardiac septum morphology Stroke Sensorineural hearing impairment Attention deficit hyperactivity disorder Micropenis Joint hypermobility Severe postnatal growth retardation Hyperlordosis Thoracic kyphosis Coarctation of aorta Unilateral renal hypoplasia Phonophobia Elfin facies Retinal vascular tortuosity Bilateral vocal cord paralysis Thyroid hemiagenesis Nystagmus-induced head nodding Increased nuchal translucency Urethral stenosis Parathyroid hyperplasia Overfriendliness Abnormality of nervous system morphology Medial flaring of the eyebrow Early onset of sexual maturation Dysgraphia Arterial stenosis Rectal prolapse Periorbital edema Peptic ulcer Cystic renal dysplasia Bladder diverticulum Lacrimation abnormality Dyssynergia Abnormal renal morphology Thyroid hypoplasia Aplasia/Hypoplasia of the iris Abnormal endocardium morphology Coronary artery stenosis Impaired visuospatial constructive cognition Supravalvular aortic stenosis Myxomatous mitral valve degeneration Flat cornea Abnormal social behavior Renovascular hypertension Paroxysmal bursts of laughter Abnormality of the gastric mucosa Infantile hypercalcemia Food intolerance Pelvic kidney Hyperacusis Retinal arteriolar tortuosity Renal artery stenosis Calcification of the aorta Abnormality of the bladder Synostosis of joints Nocturia Obsessive-compulsive trait Subvalvular aortic stenosis Overriding aorta Tubulointerstitial abnormality Abnormality of the ankles Abnormal carotid artery morphology Vascular tortuosity Abnormality of the diencephalon Colonic diverticula Renal duplication Aortic arch aneurysm Dyslexia Peripheral pulmonary artery stenosis Abnormality of pelvic girdle bone morphology Abnormality of dental morphology Unilateral renal agenesis Obsessive-compulsive behavior Chronic otitis media Nephritis Abnormality of the voice Precocious puberty Radioulnar synostosis Hypercalcemia Cholelithiasis Hypercalciuria Dysphonia Polycystic ovaries Incoordination Adducted thumb Glucose intolerance Hemivertebrae Amblyopia Gingival overgrowth Aortic valve stenosis Narrow face Increased bone mineral density Hypogonadotrophic hypogonadism Nephrocalcinosis Reduced bone mineral density Spina bifida occulta Progressive hearing impairment Widely spaced teeth Bicuspid aortic valve Sacral dimple Hypopituitarism Tracheoesophageal fistula Polyuria Decreased plasma carnitine Abnormality of the cerebral vasculature Vocal cord paralysis Blue irides Hypoplasia of the zygomatic bone Cyanosis Tubulointerstitial nephritis Abnormality of the neck Enuresis Multiple renal cysts Villous atrophy Functional abnormality of male internal genitalia Cerebral ischemia Abnormality of refraction Gait imbalance Periorbital fullness Down-sloping shoulders Patellar dislocation Loss of consciousness Prematurely aged appearance Open bite Hallux valgus Premature graying of hair Vertebral segmentation defect Celiac disease High hypermetropia Facial cleft Abnormality of the vasculature Insomnia Megalocornea Abnormality of lipid metabolism Posterior embryotoxon Nevus flammeus Pulmonary artery stenosis Stellate iris Dilatation Descending aorta hypoplasia Progressive gait ataxia Posterior scalloping of vertebral bodies Torus palatinus Motor tics Basilar impression Absent axillary hair Posterior polar cataract Narrow iliac wings Ectopic calcification Recurrent ear infections Bone cyst Generalized osteoporosis Tics Dystrophic fingernails Broad face Irregular vertebral endplates Increased size of the mandible Metatarsus adductus Spastic paraparesis Osteolysis Plagiocephaly Abnormal palate morphology Self-injurious behavior Melanocytic nevus Mixed hearing impairment Insulin-resistant diabetes mellitus Ankle clonus Basal ganglia calcification Sparse body hair Congenital hypothyroidism Hip contracture Striae distensae Absent facial hair Calcification of the auricular cartilage Paraparesis Amelogenesis imperfecta Erysipelas Thin eyebrow Poikiloderma Heat intolerance Raynaud phenomenon Scleroderma Pulmonary fibrosis Clubbing Telangiectasia Fine hair Hypopigmentation of the skin Dyspnea Intermittent diarrhea Recurrent lower respiratory tract infections Hypoplasia of the iris Superiorly displaced ears Hemolytic anemia Immunodeficiency Recurrent infections Thrombocytopenia Hepatosplenomegaly Autoimmunity Lymphadenopathy Asthma Episodic fever Nephrotic syndrome Recurrent pneumonia Recurrent bacterial infections Sarcoma Anhidrosis Autoimmune hemolytic anemia Knee flexion contracture Hypergonadotropic hypogonadism Vocal cord dysfunction External ophthalmoplegia Urinary retention Intestinal pseudo-obstruction Abdominal situs inversus Aplasia/Hypoplasia of the abdominal wall musculature Peritonitis Volvulus Achalasia Episodic abdominal pain Hyperparathyroidism Disproportionate tall stature Hydroureter Malnutrition Intestinal obstruction Hypoalbuminemia Pancreatitis Microcolon Abnormality of the liver Atrophy/Degeneration involving the corticospinal tracts Fever Vomiting Jaundice Weight loss Hydronephrosis Skeletal dysplasia Horseshoe kidney Arachnodactyly Abdominal distention Round face Intestinal malrotation Interphalangeal joint contracture of finger Aganglionic megacolon Pollakisuria Prune belly Clonus Conductive hearing impairment Gynecomastia Thickened skin Sparse scalp hair Bradykinesia Cerebral calcification Hypoplasia of the maxilla Neurodegeneration Downturned corners of mouth Short distal phalanx of finger Distal amyotrophy Synophrys Congenital cataract Abnormal pyramidal sign Aggressive behavior Deeply set eye Megacystis Hypoplasia of the corpus callosum Urethral obstruction Barrett esophagus Neuroma Gastrointestinal obstruction Hypoperistalsis Megaduodenum Intellectual disability, severe Narrow mouth Microphthalmia Areflexia Babinski sign Agenesis of corpus callosum Brachycephaly Gait ataxia Nephrolithiasis Type II diabetes mellitus Involuntary movements Hydrops fetalis Laryngomalacia Relative macrocephaly Aplasia cutis congenita Hemangioma Oligodactyly Progressive proximal muscle weakness Acanthosis nigricans Dystrophic toenail Short chin Narrow palate Calcinosis Prominent superficial veins Abnormality of the hair Cafe-au-lait spot Lymphedema Pyloric stenosis Right ventricular failure Hypersplenism Premature birth Webbed neck Abnormality of the skin Cavernous hemangioma Aplasia cutis congenita of scalp Apraxia Wide anterior fontanel Epidermal acanthosis Esophageal varix Atrial fibrillation Decreased body weight Long eyelashes Hyperpigmentation of the skin Poor suck Spastic diplegia Sepsis Generalized hyperpigmentation Pulmonary arterial hypertension Woolly hair Progeroid facial appearance Barrel-shaped chest Megalencephaly Fragile nails Thickened nuchal skin fold Microscopic hematuria Obstructive sleep apnea Hyperammonemia Neonatal hypoglycemia Syringomyelia Central hypotonia Tracheomalacia Ulnar deviation of finger Abnormality of the coagulation cascade Tricuspid regurgitation Aortic aneurysm Pleural effusion Heart murmur Hyperglycemia Cutis marmorata Patent foramen ovale Rocker bottom foot Rhabdomyolysis Large for gestational age Neurodevelopmental delay Reduced subcutaneous adipose tissue Keratoconus Curly hair Neuroblastoma Portal vein thrombosis Prominent scalp veins Large forehead Ventriculomegaly Abnormality of mitochondrial metabolism Ophthalmoparesis Neonatal respiratory distress Cerebral atrophy Keratitis Aphasia Dysphasia Milia Skin vesicle Edema Aplasia/Hypoplasia of the skin Fatigable weakness Respiratory insufficiency Lipoma Talipes equinovarus Dermal atrophy Muscle flaccidity Hypertelorism Punctate keratitis Decreased miniature endplate potentials Low-set ears Urethral stricture High palate Hyperconvex fingernails Frontal bossing Scarring alopecia of scalp Oculomotor nerve palsy Increased connective tissue Hypoplastic fingernail Echolalia Nemaline bodies Arrhythmia Palmoplantar hyperkeratosis Tetraplegia Facial palsy Cutis marmorata telangiectatica congenita Chronic hepatic failure High, narrow palate Hematuria Calcinosis cutis Wide nose Astigmatism Right atrial enlargement Fatigue Hypermetropia Arthrogryposis multiplex congenita Pectus carinatum Sparse hair Postnatal growth retardation Apnea Posteriorly rotated ears Proptosis Mutism Ventricular tachycardia Progressive muscle weakness Left ventricular hypertrophy Respiratory failure Hyperkeratosis Abnormal blistering of the skin Muscular dystrophy Hypotrichosis Nail dystrophy Hypoglycemia Carcinoma Abnormality of the nervous system Dilated cardiomyopathy Thick upper lip vermilion Verrucae Pituitary hypothyroidism Arthralgia Small for gestational age Anterior pituitary hypoplasia Blepharophimosis Craniosynostosis Prolactin deficiency Paralysis Autistic behavior Abnormal anterior horn cell morphology Thoracolumbar kyphoscoliosis Abnormality of the kidney Cleft lip Proteinuria Anxiety Pes planus Pituitary dwarfism Neurological speech impairment Patent ductus arteriosus Proximal muscle weakness Hyperactivity Encephalopathy Syndactyly Splenomegaly Depressivity Clinodactyly of the 5th finger High forehead Cerebellar hypoplasia Recurrent respiratory infections Brachydactyly Glaucoma Hypothalamic luteinizing hormone-releasing hormone deficiency Lumbar kyphosis Corneal opacity Nausea and vomiting Tremor Tetralogy of Fallot Mitral regurgitation Open mouth Recurrent otitis media Hemiparesis Myocardial infarction Renal hypoplasia Nystagmus Hypsarrhythmia Cardiomegaly Abnormality of extrapyramidal motor function Hypoplasia of penis Hypotelorism Narrow forehead Abnormality of the cardiovascular system Dehydration Malabsorption Broad nasal tip Gonadotropin deficiency Smooth philtrum Dysmetria Oral cleft Everted lower lip vermilion Hypodontia Sudden cardiac death Microdontia Chest pain Adrenocorticotropic hormone deficiency Dental malocclusion Esotropia Panhypopituitarism Renal agenesis Respiratory distress Intrauterine growth retardation Central apnea Abnormality of earlobe Duodenal ulcer Abnormal pulmonary valve morphology Bladder neoplasm Capillary malformation Triangular mouth Melena Hematemesis Deep plantar creases Thin nail Large face Papilloma Bronchomalacia Fetal distress Limited elbow movement Schwannoma Body odor Abnormal mitral valve morphology Lack of skin elasticity Abnormality of the testis Redundant neck skin Labial hypoplasia Deep palmar crease Asymmetric septal hypertrophy Broad philtrum Broad femoral neck Fasting hypoglycemia Hypoplasia of teeth Concave nail Pneumothorax Hyperextensibility of the finger joints Rhabdomyosarcoma Ulnar deviation of the wrist Postprandial hyperglycemia Wide nasal bridge Myofiber disarray Hyperreflexia Visual impairment Spasticity Severe global developmental delay Abnormality of the cerebral white matter Hepatic failure Increased corneal curvature Systolic heart murmur Thickened Achilles tendon Congenital neuroblastoma Lymphangiectasis Alveolar rhabdomyosarcoma Tendon rupture Vitreomacular adhesion Enlarged cerebellum Shyness Deep-set nails Hypopnea Concentric hypertrophic cardiomyopathy Transitional cell carcinoma of the bladder Ganglioneuroblastoma Frontal hirsutism Vestibular Schwannoma Embryonal rhabdomyosarcoma Macrocephaly at birth Multifocal atrial tachycardia Neonatal sepsis Choroid plexus papilloma Bladder carcinoma Cardiomyocyte hypertrophy Loose anagen hair Mottled pigmentation



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Fever and Ventricular hypertrophy, related diseases and genetic alterations Hyperreflexia and Hyperlordosis, related diseases and genetic alterations Delayed speech and language development and Scarring, related diseases and genetic alterations

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