Myopathy, and Clinodactyly of the 5th finger

Diseases related with Myopathy and Clinodactyly of the 5th finger

In the following list you will find some of the most common rare diseases related to Myopathy and Clinodactyly of the 5th finger that can help you solving undiagnosed cases.

Top matches:

Intellectual disability-developmental delay-contractures syndrome, formerly known as Wieacker-Wolff syndrome, is a severe X-linked recessive neurodevelopmental disorder characterized by severe contractures (arthrogryposis; see this term) and intellectual disability.

INTELLECTUAL DISABILITY-DEVELOPMENTAL DELAY-CONTRACTURES SYNDROME Is also known as wieacker syndrome|contractures of feet, muscle atrophy, and oculomotor apraxia|foot contractures-muscle atrophy-oculomotor apraxia syndrome|wieacker-wolff syndrome|mrxs4|apraxia, oculomotor, with congenital contractures and muscle atrophy|mcs|miles-carpen

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY-DEVELOPMENTAL DELAY-CONTRACTURES SYNDROME

Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss.

OSTEOPATHIA STRIATA-CRANIAL SCLEROSIS SYNDROME Is also known as hyperostosis generalisata with striations|robinow-unger syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about OSTEOPATHIA STRIATA-CRANIAL SCLEROSIS SYNDROME

Medium match PROTEUS SYNDROME

Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems.

PROTEUS SYNDROME Is also known as partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome|gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PROTEUS SYNDROME

Other less relevant matches:

1p36 deletion syndrome is a chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency.

1P36 DELETION SYNDROME Is also known as del(1)(p36)|monosomy 1p36|monosomy 1pter|deletion 1pter|deletion 1p36|monosomy 1p36 syndrome|subtelomeric 1p36 deletion

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 1P36 DELETION SYNDROME

Medium 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

The 2 dominantly inherited, clinically similar types of episodic flaccid generalized weakness, HOKPP and HYPP, are distinguished by the changes in serum potassium levels during paralytic attacks. An important clinical difference between the 2 entities is represented by the triggers of attacks of weakness, e.g., HYPP can be provoked by oral potassium administration, whereas this is a remedy for HOKPP. Concurrence of myotonia is found in HYPP but usually not in HOKPP patients (Jurkat-Rott et al., 2000).Jurkatt-Rott and Lehmann-Horn (2007) provided a review of the clinical features, pathogenesis, and therapeutic options for HYPP.

HYPERKALEMIC PERIODIC PARALYSIS; HYPP Is also known as adynamia episodica hereditaria with or without myotonia|gamstorp disease

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Muscle weakness
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about HYPERKALEMIC PERIODIC PARALYSIS; HYPP

Heart-hand syndrome of Slovenian type is a rare autosomal dominant form of heart-hand syndrome (see this term), first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases.

HEART-HAND SYNDROME, SLOVENIAN TYPE Is also known as atriodigital dysplasia, slovenian type|cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome

Related symptoms:

  • Muscle weakness
  • Flexion contracture
  • Brachydactyly
  • Cardiomyopathy
  • Myopathy


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HEART-HAND SYNDROME, SLOVENIAN TYPE

Klippel-Feil syndrome-4 with nemaline myopathy and facial dysmorphism is an autosomal recessive disorder characterized mainly by severe hypotonia apparent from infancy. Klippel-Feil anomaly is primarily defined by fusion of the cervical spine, with associated low posterior hairline and limited neck mobility being observed in about half of patients (summary by Alazami et al., 2015).For a general description and a discussion of genetic heterogeneity of Klippel-Feil syndrome, see KFS1 (OMIM ).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about KLIPPEL-FEIL ANOMALY-MYOPATHY-FACIAL DYSMORPHISM SYNDROME

Multiminicore disease (MMD) is an inherited neuromuscular disorder defined pathologically by the presence of multiple areas of reduced mitochondrial oxidative activity running along a limited extent of the longitudinal axis of the muscle fiber, so-called 'minicores.' These regions show sarcomere disorganization and mitochondria depletion. Typically, no dystrophic signs, such as muscle fiber necrosis or regeneration or significant endomysial fibrosis, are present. MMD is a pathologic diagnosis and shows clinical and genetic heterogeneity. Affected individuals have clinical features of a congenital myopathy, including neonatal hypotonia, delayed motor development, and generalized muscle weakness and amyotrophy, which may progress slowly or remain stable (Ferreiro and Fardeau, 2002).Patients with recessive mutations in the RYR1 gene typically show severe congenital muscular dystrophy with ophthalmoplegia, although there is phenotypic variability. Some patients may present in utero with fetal akinesia, arthrogryposis, and lung hypoplasia resulting in fetal or perinatal death (McKie et al., 2014). Skeletal muscle biopsy of patients with recessive RYR1 mutations show variable features, including central cores (Jungbluth et al., 2007), congenital fiber-type disproportion (CFTD) (Monnier et al., 2009), and centronuclear myopathy (Wilmshurst et al., 2010).

CONGENITAL MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA Is also known as minicore myopathy|multicore myopathy|multiminicore disease with external ophthalmoplegia|multiminicore myopathy multicore myopathy with external ophthalmoplegia

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA

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

Top 5 symptoms//phenotypes associated to Myopathy and Clinodactyly of the 5th finger

Symptoms // Phenotype % cases
Scoliosis Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Flexion contracture Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Myopathy and Clinodactyly of the 5th finger. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Clinodactyly

Uncommon Symptoms - Between 30% and 50% cases

High palate

Common Symptoms - More than 50% cases

Low-set ears

Uncommon Symptoms - Between 30% and 50% cases

Ptosis

Common Symptoms - More than 50% cases

Intellectual disability

Uncommon Symptoms - Between 30% and 50% cases

Micrognathia

Common Symptoms - More than 50% cases

Kyphosis

Uncommon Symptoms - Between 30% and 50% cases

Short stature Seizures Long philtrum Pain Cataract Downslanted palpebral fissures Kyphoscoliosis Feeding difficulties Strabismus Microcephaly Global developmental delay Gastroesophageal reflux Pectus excavatum Abnormality of cardiovascular system morphology Depressed nasal bridge Constipation Cleft palate Myopia Paralysis Hyperlordosis Camptodactyly Dolichocephaly Hypertelorism Short neck Anteverted nares Delayed speech and language development Abnormality of the skeletal system Coarctation of aorta Narrow palate Atrial septal defect Mitral regurgitation Micropenis Ventricular septal defect Webbed neck Dental malocclusion Joint laxity Macrocephaly Feeding difficulties in infancy Wide nasal bridge Epicanthus Talipes equinovarus Hearing impairment Cognitive impairment Long face Failure to thrive Respiratory insufficiency Motor delay Cryptorchidism Open mouth Respiratory distress Hypothyroidism Retrognathia Pes planus Facial palsy Muscular hypotonia Apnea Intellectual disability, mild Cardiomyopathy Neurological speech impairment Growth delay Malar flattening Joint stiffness Patent ductus arteriosus Narrow face Skeletal muscle atrophy Craniosynostosis Glaucoma Abnormality of the neck Syndactyly

Rare Symptoms - Less than 30% cases

Increased nuchal translucency Abnormal lung lobation Sensorineural hearing impairment Generalized muscle weakness Flat cornea Lower limb asymmetry Spinal canal stenosis Abnormal social behavior Arrhythmia Macrotia Delayed cranial suture closure Dysphasia Submucous cleft hard palate Delayed closure of the anterior fontanelle Asymmetry of the thorax Facial hyperostosis Nystagmus Hernia Optic atrophy Visual loss Abdominal pain Intellectual disability, moderate Disproportionate tall stature Carious teeth Polymicrogyria Renal cyst Sudden cardiac death Edema Overgrowth Abnormal form of the vertebral bodies Heterotopia Nemaline bodies Generalized hirsutism Decreased muscle mass Hallux valgus Centrally nucleated skeletal muscle fibers Delayed skeletal maturation Visual impairment High hypermetropia Pointed chin Megalocornea Bicuspid aortic valve Sacral dimple Scrotal hypoplasia Infantile muscular hypotonia Failure to thrive in infancy Open bite Loss of consciousness Aortic root aneurysm Ventricular hypertrophy Redundant skin Arnold-Chiari type I malformation Amblyopia Cardiomegaly Mitral valve prolapse Aortic arch aneurysm Abnormality of the cardiovascular system Stroke Everted lower lip vermilion Chest pain Decreased body weight Hypsarrhythmia Brachydactyly Autism Gait disturbance Behavioral abnormality Congestive heart failure Hypertension Midface retrusion Absent speech Obesity Esotropia Pes cavus Cerebral cortical atrophy Deeply set eye Hypoplasia of penis Pyloric stenosis Neonatal hypotonia Low-set, posteriorly rotated ears Abnormality of the kidney Blepharophimosis Abnormal cardiac septum morphology Small for gestational age Dilated cardiomyopathy Oral cleft Tetralogy of Fallot Hyperostosis Abnormality of dental enamel Recurrent respiratory infections Microtia Headache Dilatation Abnormal heart morphology Posteriorly rotated ears Prominent forehead Brachycephaly Polyhydramnios Skeletal dysplasia Conductive hearing impairment Hydronephrosis Cleft lip Broad forehead Hydrocephalus Ophthalmoplegia Arachnodactyly Cleft upper lip Thick vermilion border High, narrow palate Broad nasal tip Bifid uvula Intestinal malrotation Abnormality of the skin Narrow forehead Thick lower lip vermilion Large fontanelles Abnormality of the dentition Hypoplasia of the corpus callosum Abnormal vertebral morphology Abnormality of the foot Spasticity Peripheral neuropathy Hyperreflexia Dysphagia Cerebral atrophy Areflexia Upslanted palpebral fissure Hyperkeratosis Hip dislocation Arthrogryposis multiplex congenita Hypermetropia Smooth philtrum Ventriculomegaly Peripheral axonal neuropathy Delayed myelination Decreased fetal movement Exotropia Joint contracture of the hand Elbow flexion contracture Congenital contracture Akinesia Rocker bottom foot Fetal akinesia sequence Neoplasm Frontal bossing Dental crowding High forehead Increased bone mineral density Aortic valve stenosis Spina bifida occulta Spontaneous abortion Prematurely aged appearance Anisometropia Joint hypermobility Premature graying of hair Vertebral segmentation defect Celiac disease Overjet Bradycardia Spontaneous pneumothorax Glucose intolerance Facial cleft Reduced subcutaneous adipose tissue Cystic medial necrosis Pectus carinatum Restlessness Polyuria Hypoplastic toenails Tracheoesophageal fistula Precocious puberty Incisional hernia Cholelithiasis Increased axial length of the globe Hypercalcemia Polyneuropathy Radioulnar synostosis Portal hypertension Insomnia Abnormality of the voice Nephritis Chronic otitis media Obsessive-compulsive behavior Unilateral renal agenesis Abnormality of dental morphology Retinal detachment Type 1 and type 2 muscle fiber minicore regions Posterior embryotoxon Abnormal muscle morphology Villous atrophy Frog-leg posture Protrusio acetabuli Tubulointerstitial nephritis Large earlobe Abnormality of the cerebral vasculature Enuresis Dyslexia Chronic constipation Tibialis atrophy Cerebral ischemia Abnormality of refraction Gait imbalance Dural ectasia Rectus femoris muscle atrophy Periorbital fullness Right ventricular hypertrophy Premature osteoarthritis Abnormality of lipid metabolism Abnormality of the vasculature Dysphonia Nevus flammeus Soft skin Microspherophakia Poor coordination Pulmonary artery stenosis Patellar dislocation Hypoplasia of the zygomatic bone Hypertropia Multiple renal cysts Hypopnea Down-sloping shoulders Vocal cord paralysis Blue irides Sternocleidomastoid amyotrophy Hypercalciuria Abnormality of pelvic girdle bone morphology Polycystic ovaries Back pain Pulmonic stenosis Nausea and vomiting Malabsorption Genu valgum Joint hyperflexibility Dysmetria Sleep disturbance Medial rotation of the medial malleolus Postural instability Hypodontia Macroglossia Full cheeks Emphysema Vesicoureteral reflux Restrictive ventilatory defect Corneal opacity Attention deficit hyperactivity disorder Otitis media Heart murmur Arthralgia Coarse facial features Umbilical hernia Anxiety Hammertoe Proteinuria Aortic aneurysm Scarring Hypertrophic cardiomyopathy Developmental regression Irritability Protruding ear Ectopia lentis Autistic behavior Wide mouth Sleep apnea Renal agenesis Incoordination Abnormal dermatoglyphics Increased body weight Hypogonadotrophic hypogonadism Hemivertebrae Nephrocalcinosis Abnormality of the fingernails Cutis laxa Progressive hearing impairment Hoarse voice Widely spaced teeth Ischemic stroke Schizophrenia Arnold-Chiari malformation Reduced bone mineral density Adducted thumb Decreased plasma carnitine Abnormal lung morphology Gingival overgrowth Microdontia Type II diabetes mellitus Dehydration Mitral annular calcification Hypotelorism Aortic regurgitation Abnormality of extrapyramidal motor function Tall stature Renal hypoplasia Pulmonary artery dilatation Small nail Myocardial infarction Hemiparesis Recurrent otitis media Involuntary movements Recurrent urinary tract infections Nephrolithiasis Tricuspid valve prolapse Peripheral pulmonary artery stenosis Endocarditis Upper limb muscle weakness Lid lag on downgaze Pulmonary edema Limb muscle weakness Spondylolisthesis Increased variability in muscle fiber diameter Slender finger Supraventricular arrhythmia Periodic hyperkalemic paralysis Abnormal atrioventricular conduction Aplasia of the middle phalanx of the hand Distal symphalangism of hands Abnormal electrophysiology of sinoatrial node origin Thin upper lip vermilion Falls Episodic flaccid weakness Periodic paralysis Underdeveloped nasal alae Descending aorta hypoplasia Nystagmus-induced head nodding Overfriendliness Early onset of sexual maturation Dyssynergia Stellate iris Functional abnormality of male internal genitalia Vocal cord dysfunction Ketosis Atrophy/Degeneration involving the corticospinal tracts Low back pain Muscle stiffness Cystic hygroma Myotonia Myopathic facies Skeletal muscle hypertrophy Bulbous nose Low posterior hairline Bilateral vocal cord paralysis Arachnoid cyst Respiratory tract infection Striae distensae Meningocele Prominent nasal bridge Muscular dystrophy Pulmonary hypoplasia Single transverse palmar crease Proximal muscle weakness Hypoplasia of the iris Aciduria Subarachnoid hemorrhage Cyanosis Dilatation of the cerebral artery Tented upper lip vermilion External ophthalmoplegia Obstructive sleep apnea Respiratory failure Frequent falls Mask-like facies Osteopenia Aortic dissection Bilateral ptosis Mild short stature Bilateral cryptorchidism Thoracolumbar scoliosis Fused cervical vertebrae Pneumonia Acetabular dysplasia Congenital muscular dystrophy Pterygium Cervical C2/C3 vertebral fusion Limitation of neck motion Genu recurvatum Thoracic kyphosis Thyroid hemiagenesis Difficulty running Hydrops fetalis Increased connective tissue Generalized limb muscle atrophy Muscle fiber necrosis Abnormality of the sternum 3-Methylglutaconic aciduria Homocystinuria Axial muscle weakness Exercise-induced myalgia Pneumothorax Large for gestational age Type 1 muscle fiber predominance Shoulder girdle muscle weakness Facial diplegia Dysgraphia Abnormality of nervous system morphology Phonophobia Arterial stenosis Rectal prolapse Urethral stenosis Hypoplasia of the musculature Subvalvular aortic stenosis Thoracic aortic aneurysm Abnormal renal morphology Overbite Ascending tubular aorta aneurysm Lacrimation abnormality Muscle fiber hypertrophy Functional respiratory abnormality Bladder diverticulum Cystic renal dysplasia Internally nucleated skeletal muscle fibers Peptic ulcer Type 1 muscle fiber atrophy Minicore myopathy Periorbital edema Parathyroid hyperplasia Abnormal glucose tolerance Distal arthrogryposis Impaired visuospatial constructive cognition Food intolerance Infantile hypercalcemia Abnormality of the gastric mucosa Renovascular hypertension Severe postnatal growth retardation Supravalvular aortic stenosis Calcification of the aorta Hyperacusis Unilateral renal hypoplasia Myxomatous mitral valve degeneration Paroxysmal bursts of laughter Abnormal carotid artery morphology Abnormality of the diencephalon Medial flaring of the eyebrow Elfin facies Pelvic kidney Retinal arteriolar tortuosity Bell-shaped thorax Vascular tortuosity Retinal vascular tortuosity Thyroid hypoplasia Abnormal endocardium morphology Aplasia/Hypoplasia of the iris Renal duplication Colonic diverticula Abnormality of the ankles Coronary artery stenosis Tubulointerstitial abnormality Overriding aorta Obsessive-compulsive trait Nocturia Synostosis of joints Abnormality of the bladder Renal artery stenosis Epiphora Abnormality of vision Diabetes mellitus Sinusitis Decreased antibody level in blood High myopia Epidermal acanthosis Subcutaneous nodule Thickened skin Abnormality of retinal pigmentation Lymphedema Lymphopenia Nevus Abnormality of the nail Venous thrombosis Hemangioma Abnormality of the metacarpal bones Goiter Palmoplantar hyperkeratosis Reduced number of teeth Round face Gliosis Cachexia Splenomegaly Unilateral facial palsy High iliac wings Osteopathia striata Metaphyseal striations Straight clavicles Paranasal sinus hypoplasia Fever Immunodeficiency Abdominal distention Recurrent infections Proptosis Carcinoma Finger syndactyly Facial asymmetry Confusion Abnormality of skin pigmentation Growth abnormality Lipodystrophy Craniofacial osteosclerosis Myofibrillar myopathy Deep venous thrombosis Varicose veins Arteriovenous malformation Hemihypertrophy Anisocytosis Arterial thrombosis Buphthalmos Thin bony cortex Macroorchidism Long penis Visceral angiomatosis Thick nasal alae Enlarged polycystic ovaries Asymmetric growth Vascular skin abnormality Thrombophlebitis Meningioma Abnormality of the wrist Chorioretinal coloboma Ovarian neoplasm Melanocytic nevus Diabetes insipidus Pericardial effusion Neurofibromas Multiple lipomas Multiple cafe-au-lait spots Hamartoma Generalized hyperpigmentation Abnormality of finger Pulmonary embolism Irregular hyperpigmentation Neoplasm of the lung Lipoma Exostoses Papilledema Capillary hemangioma Spinal cord compression Laryngeal web Large iliac wings Neoplasm of the central nervous system Wide intermamillary distance Congenital foot contractures Intellectual disability, severe Severe short stature Anal atresia Thin vermilion border Flat face Delayed eruption of teeth Specific learning disability Spinal deformities Cerebral calcification Oligohydramnios Lumbar hyperlordosis Abnormality of the metaphysis Omphalocele Aganglionic megacolon Spina bifida Palmar hyperkeratosis U-Shaped upper lip vermilion Microretrognathia Decreased testicular size Dystonia Distal muscle weakness Narrow chest Abnormality of eye movement Abnormality of movement Distal amyotrophy Limitation of joint mobility Apraxia Broad alveolar ridges Oculomotor apraxia Cerebral palsy Drooling Proximal placement of thumb Neonatal respiratory distress Bulbar palsy High anterior hairline Multicystic kidney dysplasia Osteolysis Laryngotracheomalacia White forelock Misalignment of teeth Echolalia Ectopic anus Thoracic dysplasia Broad ribs Large forehead Facial paralysis Fibular aplasia Pierre-Robin sequence Otosclerosis Thoracolumbar kyphosis Sclerosis of skull base Flexion contracture of toe Rough bone trabeculation Broad clavicles Alobar holoprosencephaly Osteopetrosis Ankylosis Holoprosencephaly Flat occiput Cutaneous syndactyly Mutism Nasal speech Increased susceptibility to fractures Metaphyseal widening Overfolded helix Nephroblastoma Aphasia Tracheomalacia Hypoplastic left heart Visual field defect Mixed hearing impairment Partial agenesis of the corpus callosum Thickened calvaria Natal tooth Anal stenosis Fibular hypoplasia Generalized hyperkeratosis Venous malformation Osteoporosis Biliary tract abnormality Left ventricular noncompaction Abnormality of the spleen Rib fusion Thickened helices Colpocephaly Abnormal renal physiology Abnormal left ventricle morphology Abnormality of chromosome stability Volvulus Cavum septum pellucidum Periventricular leukomalacia Abnormal corpus callosum morphology Impaired social interactions Lambdoidal craniosynostosis Abnormality of female external genitalia Abnormality of the mandible Redundant neck skin Delayed CNS myelination Abnormality of the anus Abnormal eyebrow morphology Anteriorly placed anus Congenital hypothyroidism Foot polydactyly Epileptic spasms Overweight Self-mutilation Hiatus hernia Coronal craniosynostosis Dilation of lateral ventricles Ocular albinism Short 5th finger Missing ribs Abnormality of the gastrointestinal tract Optic nerve coloboma 11 pairs of ribs Abnormality of the testis Gastric ulcer Abnormality of the optic disc Slender long bone Intrauterine growth retardation Abnormal parietal bone morphology Abnormality of the cerebral ventricles Abnormality of the renal pelvis Solitary renal cyst Agenesis of the anterior commissure Ataxia Dysarthria Tremor Aplasia/Hypoplasia involving bones of the feet Hypertonia Short nose Renal insufficiency Depressivity Inguinal hernia Elevated serum creatine phosphokinase Cerebellar hypoplasia Hyperplastic labia majora Congenital talipes calcaneovalgus Expressive language delay Cranial nerve VI palsy Abnormality of brain morphology Annular pancreas Muscle flaccidity Hypoplastic labia minora Horizontal eyebrow Abnormal external genitalia Talipes valgus Noncompaction cardiomyopathy Bilobate gallbladder Asymmetry of the ears Oppositional defiant disorder Abnormality of the hairline Hypoplastic female external genitalia Bifid ribs Ebstein anomaly of the tricuspid valve Abnormality of the femoral neck Widened subarachnoid space Neuroblastoma Telangiectasia of the skin Epibulbar dermoid Narrow mouth Connective tissue nevi Depigmentation/hyperpigmentation of skin Hypertrophy of skin of soles Mandibular hyperostosis Hypospadias Agenesis of corpus callosum Hypogonadism Mandibular prognathia Neoplasm of the thymus EEG abnormality Aggressive behavior Abnormality of the eye Abnormality of the pinna Abnormality of the liver Coloboma Camptodactyly of finger Central heterochromia Abnormal subcutaneous fat tissue distribution Synophrys Calvarial hyperostosis Nephrogenic diabetes insipidus Keloids Upper limb asymmetry Testicular neoplasm Lymphangioma Epidermal nevus Metatarsus valgus Portal vein thrombosis Retinal nonattachment Macrodactyly Sirenomelia Narrow internal auditory canal Nevus sebaceous Thymus hyperplasia Retinal hamartoma Bronchogenic cyst Abnormality of the cerebral white matter Poor speech Absent septum pellucidum Congenital sensorineural hearing impairment Leukoencephalopathy Aplasia/Hypoplasia of the corpus callosum Delayed gross motor development Patent foramen ovale Hand polydactyly Self-injurious behavior Clitoral hypertrophy Hemiplegia/hemiparesis Cranial nerve paralysis Metatarsus adductus Hypermelanotic macule Polyphagia Macule Infantile spasms Abnormal heart valve morphology Abnormality of the immune system Hypercholesterolemia Abnormal intestine morphology Hepatic steatosis Interphalangeal joint contracture of finger Short foot Brain atrophy Hip dysplasia Epileptic encephalopathy Abnormal blistering of the skin Optic disc pallor Abnormality of the ribs Tetraparesis Spastic tetraparesis Depressed nasal ridge Hypertrichosis Pachygyria Telangiectasia Stereotypy Short phalanx of finger Wide anterior fontanel Narrow palpebral fissure Inferior oblique muscle overaction


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