Brachydactyly, and Hypercholesterolemia

Diseases related with Brachydactyly and Hypercholesterolemia

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


Top matches:

Medium match LARON SYNDROME


Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration.

LARON SYNDROME Is also known as complete growth hormone insensitivity|primary growth hormone insensitivity|gh receptor deficiency|growth hormone receptor deficiency|laron-type dwarfism|short stature due to growth hormone resistance|pituitary dwarfism ii|primary growth hormone resistance

Related symptoms:

  • Intellectual disability
  • Micrognathia
  • Abnormal facial shape
  • Motor delay
  • Brachydactyly


SOURCES: ORPHANET MENDELIAN

More info about LARON SYNDROME

Medium match GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY


GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY Is also known as growth hormone insensitivity due to postreceptor defect|laron syndrome due to postreceptor defect

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY

Medium match SMITH-MAGENIS SYNDROME


Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay.

SMITH-MAGENIS SYNDROME Is also known as 17p11.2 microdeletion syndrome

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about SMITH-MAGENIS SYNDROME

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Other less relevant matches:

Medium match SMITH-MAGENIS SYNDROME; SMS


SMITH-MAGENIS SYNDROME; SMS Is also known as chromosome 17p11.2 deletion syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SMITH-MAGENIS SYNDROME; SMS

Medium match 1P36 DELETION SYNDROME


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 SMITH-LEMLI-OPITZ SYNDROME


Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems.

SMITH-LEMLI-OPITZ SYNDROME Is also known as rutledge lethal multiple congenital anomaly syndrome|slos|lethal acrodysgenital syndrome|rsh syndrome|slo syndrome|7-dehydrocholesterol reductase deficiency|polydactyly, sex reversal, renal hypoplasia, and unilobar lung

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SMITH-LEMLI-OPITZ SYNDROME

Low match ALAGILLE SYNDROME 1; ALGS1


Alagille syndrome is an autosomal dominant disorder that traditionally has been defined by a paucity of intrahepatic bile ducts, in association with 5 main clinical abnormalities: cholestasis, cardiac disease, skeletal abnormalities, ocular abnormalities, and a characteristic facial phenotype (Li et al., 1997). Cholestasis is a direct consequence of the paucity of bile ducts. About 39% of patients also have renal involvement, mainly renal dysplasia (Kamath et al., 2012).Turnpenny and Ellard (2012) reviewed the clinical features, diagnosis, pathogenesis, and genetics of Alagille syndrome. Genetic Heterogeneity of Alagille SyndromeAnother form of Alagille syndrome (ALGS2 ) is caused by mutation in the NOTCH2 gene (OMIM ).

ALAGILLE SYNDROME 1; ALGS1 Is also known as algs|alagille-watson syndrome|alagille syndrome|hepatic ductular hypoplasia, syndromatic|arteriohepatic dysplasia|aws|cholestasis with peripheral pulmonary stenosis|ahd

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALAGILLE SYNDROME 1; ALGS1

Low match ALSTRÖM SYNDROME


Alström syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction.

ALSTRÖM SYNDROME Is also known as alss

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ALSTRÖM SYNDROME

Low match HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3


HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3 Is also known as fh3

Related symptoms:

  • Hypercholesterolemia


SOURCES: OMIM MESH MENDELIAN

More info about HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3

Low match LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 7; LDLCQ7


LDLCQ7 is a quantitative trait affecting LDL levels that is effected through the NPC1L1 gene, which is responsible for the intestinal absorption of cholesterol. NPC1L1 is the molecular target for the drug ezetimibe, and variants in this gene affect response to this drug.

Related symptoms:

  • Hypercholesterolemia


SOURCES: OMIM MENDELIAN

More info about LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 7; LDLCQ7

Top 5 symptoms//phenotypes associated to Brachydactyly and Hypercholesterolemia

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Strabismus Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Brachydactyly and Hypercholesterolemia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Growth delay

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment

Common Symptoms - More than 50% cases


Seizures

Uncommon Symptoms - Between 30% and 50% cases


Deeply set eye

Common Symptoms - More than 50% cases


Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases


Constipation Scoliosis Abnormality of the kidney Hypertelorism Delayed puberty Upslanted palpebral fissure Cataract Gastroesophageal reflux Conductive hearing impairment Obesity Abnormal facial shape Microcephaly Feeding difficulties Cleft palate Delayed speech and language development Clinodactyly Behavioral abnormality Sensorineural hearing impairment Cryptorchidism Depressed nasal bridge Self-injurious behavior Myopia Frontal bossing Ventriculomegaly Anteverted nares Abnormality of cardiovascular system morphology Brachycephaly Hypothyroidism Sleep disturbance Hypertriglyceridemia Wide nasal bridge Clinodactyly of the 5th finger Short toe Intrauterine growth retardation Prominent forehead Delayed skeletal maturation Motor delay Hypoplasia of penis Pes planus EEG abnormality Epicanthus High forehead Hypoplasia of the corpus callosum Feeding difficulties in infancy Autism Low-set ears Hypoglycemia Mandibular prognathia Delayed eruption of teeth Patent ductus arteriosus Synophrys Microcornea Kyphosis Reduced number of teeth Abnormality of the ribs Decreased fetal movement Atrial septal defect Abnormal form of the vertebral bodies Stereotypy Generalized hypotonia Aplasia/Hypoplasia of the corpus callosum Renal hypoplasia/aplasia Precocious puberty Ventricular septal defect Abnormal renal morphology Downslanted palpebral fissures Optic atrophy Depressed nasal ridge Self-mutilation Nystagmus Peripheral neuropathy Coarctation of aorta Increased body weight Aggressive behavior Abnormality of the liver Truncal obesity Muscular hypotonia Cognitive impairment Posteriorly rotated ears Hypertension Short nose Hyporeflexia Severe short stature Midface retrusion

Rare Symptoms - Less than 30% cases


Increased number of teeth Abnormal renal physiology Cavum septum pellucidum Overweight Hepatic failure Otitis media Vesicoureteral reflux Poor suck Round face Abnormality of the larynx Pachygyria Gastrointestinal hemorrhage Portal hypertension Sacral dimple Abnormality of the urinary system Sinusitis Aplasia/Hypoplasia of the cerebellum Abnormal vertebral morphology Specific learning disability Pigmentary retinopathy Abnormality of the immune system Abnormality of female external genitalia Chorioretinal atrophy Autistic behavior Multicystic kidney dysplasia Dilated cardiomyopathy Scrotal hypoplasia Short neck Vomiting Generalized hirsutism Pointed chin Polydactyly Low-set, posteriorly rotated ears Hypermetropia Pyloric stenosis Chronic hepatic failure Hepatic steatosis Renal cyst Hypopigmentation of the skin Intestinal malrotation Tetralogy of Fallot Optic disc pallor Hydronephrosis Clitoral hypertrophy High palate Recurrent otitis media Visual impairment Abnormality of the skeletal system Hydrocephalus Cardiomyopathy Abnormality of the optic disc Long philtrum Hypospadias Hypogonadism Metatarsus adductus Micropenis Renal hypoplasia Coronal craniosynostosis Abnormal lung lobation Telangiectasia of the skin Cirrhosis Polyphagia Nephropathy Heterotopia Abnormal left ventricle morphology Hepatomegaly Pneumonia Abnormal localization of kidney Abnormality of the elbow Jaundice High pitched voice Oral cleft Aplasia/Hypoplasia involving the nose Impaired pain sensation Hypohidrosis Scarring Hypoplastic nasal bridge Hyperacusis Abnormal tracheobronchial morphology Joint stiffness Abnormality of the ureter Chronic otitis media Ataxia Gait disturbance Attention deficit hyperactivity disorder Short philtrum Broad forehead Neurological speech impairment Toe syndactyly Anxiety Cleft upper lip Hand polydactyly Retinal detachment Hepatosplenomegaly Elevated hepatic transaminase Hoarse voice Prematurely aged appearance Failure to thrive in infancy Retinopathy Visual loss Osteoarthritis Microdontia Pes cavus Hyperactivity Cerebral cortical atrophy Polyhydramnios Intellectual disability, moderate Cholestatic liver disease Pulmonic stenosis Congestive heart failure Areflexia Microtia Eczema Progressive visual loss Recurrent infections Growth hormone deficiency Dry skin Stage 5 chronic kidney disease Chronic diarrhea Abnormal heart morphology Underdeveloped supraorbital ridges Diarrhea Pain Dilatation Neoplasm Edema Abnormality of the dentition Renal insufficiency Respiratory distress Blue sclerae Malar flattening Rod-cone dystrophy Respiratory failure Abdominal pain Kyphoscoliosis Myoclonus Diabetes mellitus Hyperkeratosis Elevated 7-dehydrocholesterol Weight loss Encephalopathy Dyspnea Alopecia Hyperhidrosis Recurrent respiratory infections Respiratory tract infection Photophobia Cardiomegaly Abdominal distention Asthma Urinary incontinence Decreased testicular size Cyanosis Hepatitis Type II diabetes mellitus Retinal dystrophy Epidermal acanthosis Pulmonary arterial hypertension Involuntary movements Recurrent urinary tract infections Left ventricular hypertrophy Thickened skin Ascites Hirsutism Myalgia Cough Proteinuria Irritability Postnatal growth retardation Pallor Sparse hair Nyctalopia Generalized tonic-clonic seizures Tachycardia Hypotrichosis Ophthalmoplegia Carious teeth Infertility Retinal degeneration Lymphadenopathy Nausea Depressivity Abnormality of skin pigmentation Splenomegaly Finger clinodactyly Hepatocellular carcinoma Exocrine pancreatic insufficiency Posterior embryotoxon Renal tubular acidosis Keratoconus Prolonged neonatal jaundice Long nose Vertebral segmentation defect Malnutrition Hypoplasia of the ulna Heart murmur Glomerulosclerosis Corneal dystrophy Spina bifida occulta Hemivertebrae Dilatation of the cerebral artery Lymphedema Exotropia Renal dysplasia Stroke Cholestasis Pruritus Nephrotic syndrome Prominent nose Malabsorption Anal atresia Triangular face Hypodontia Short distal phalanx of finger Flat face Craniosynostosis Abnormality of the vasculature Dystonia Axenfeld anomaly Blindness Respiratory insufficiency Fatigue Butterfly vertebral arch Reduced number of intrahepatic bile ducts Intellectual disability, mild Rectourethral fistula Unicoronal synostosis Intrahepatic biliary atresia Acidosis Multiple small medullary renal cysts Macrotia Renal artery stenosis Coarse facial features Papillary thyroid carcinoma Pulmonary artery stenosis Band keratopathy Biliary atresia Abnormal anterior chamber morphology Butterfly vertebrae Arterial stenosis Hypopigmentation of the fundus Fat malabsorption Peripheral pulmonary artery stenosis Abnormal pupil morphology Carcinoma Thyroid carcinoma Protruding ear Peripheral arterial stenosis Intrahepatic cholestasis Vitamin D deficiency Acute hepatic failure Anorexia Frontal balding Urethral stenosis Hepatic encephalopathy Multinodular goiter Bull's eye maculopathy Vertical nystagmus Increased total bilirubin Hematemesis Acute pancreatitis Melena First degree atrioventricular block Decreased glomerular filtration rate Abnormal spermatogenesis Chronic infection Abnormality of the urethra Lumbar scoliosis Achromatopsia Chills Epigastric pain Endocardial fibroelastosis Chronic obstructive pulmonary disease Esophageal varix Restrictive cardiomyopathy High-frequency hearing impairment Ovarian cyst Decreased HDL cholesterol concentration Menstrual irregularities Retinal pigment epithelial atrophy Pyelonephritis Disinhibition Testicular atrophy Tubulointerstitial fibrosis Elevated C-reactive protein level Arteriosclerosis Urinary retention Poor fine motor coordination Abnormality of dental color Abnormal chorioretinal morphology Myocardial fibrosis Recurrent cystitis Hyperostosis frontalis interna Receptive language delay Granular macular appearance Thickened ears Dilatation of the bladder Unilateral breast hypoplasia Glue ear Widely-spaced incisors Abnormal adipose tissue morphology Abnormal retinal artery morphology Precocious puberty in females EEG with occipital slowing Abnormality of prothrombin Abnormality of renal calyx morphology Localized hirsutism Vitreous haze Chronic active hepatitis Nonproductive cough Urethral stricture Abnormality of the pituitary gland Impaired temperature sensation Female hypogonadism Abnormal muscle tone Albuminuria Renovascular hypertension Squared iliac bones Urethral obstruction Hypoplastic male external genitalia Exudative retinopathy Hepatic necrosis Facial hirsutism ST segment depression Multifocal atrial tachycardia Childhood-onset truncal obesity High-frequency sensorineural hearing impairment Increased circulating androgen level Chronic fatigue Male hypogonadism Abnormality of retinal pigmentation Nephritis Polycystic ovaries Abnormality of the hand Cholelithiasis Elevated alkaline phosphatase Hyperinsulinemia Lipodystrophy Polydipsia Obsessive-compulsive behavior Cone/cone-rod dystrophy Constriction of peripheral visual field Impaired vibratory sensation Acne Hyperostosis Hyperglycemia Diabetes insipidus Glucose intolerance Goiter Tachypnea Emphysema Horizontal nystagmus Insulin resistance Decreased liver function Hepatic fibrosis Hyperpigmentation of the skin Gynecomastia Hypergonadotropic hypogonadism Recurrent pneumonia Hypogonadotrophic hypogonadism Pancreatitis Nephrocalcinosis Absence seizures Accelerated skeletal maturation Macular degeneration Acanthosis nigricans Atherosclerosis Hyperlipidemia Polyuria Pulmonary fibrosis Oligospermia Pendular nystagmus Hyperventilation Poor coordination Oligomenorrhea Posterior subcapsular cataract Broad foot Ketoacidosis Gingivitis Tubulointerstitial nephritis Peripheral visual field loss Attenuation of retinal blood vessels Right ventricular hypertrophy Elevated serum creatinine Facial capillary hemangioma Recurrent bronchitis Tubular atrophy Myocarditis Alopecia of scalp Retinal atrophy Hydroureter Glycosuria Urinary urgency Abnormal retinal morphology Pericardial effusion Short finger Agenesis of permanent teeth Progressive sensorineural hearing impairment Glomerulopathy Bronchitis Insulin-resistant diabetes mellitus Hyperuricemia Subcapsular cataract Pericarditis Thoracic scoliosis Autoimmune thrombocytopenia Severe sensorineural hearing impairment Hypoventilation Abnormality of limbs Retrognathia Opsoclonus Decreased body weight Hypsarrhythmia Interphalangeal joint contracture of finger Ventricular hypertrophy Tetraparesis Hypertrichosis Mitral regurgitation Large fontanelles Epileptic encephalopathy Telangiectasia Short phalanx of finger Wide anterior fontanel Narrow palpebral fissure Spastic tetraparesis Abnormal intestine morphology Abnormal blistering of the skin Hip dysplasia Leukoencephalopathy Camptodactyly of finger Camptodactyly Abnormality of the eye Abnormality of the pinna Blepharophimosis Coloboma Abnormal cardiac septum morphology Small for gestational age Abnormality of the skin Abnormality of the cerebral white matter Poor speech Polymicrogyria Short foot Bifid uvula Brain atrophy Delayed myelination Cranial nerve paralysis Bicuspid aortic valve Narrow mouth Ocular albinism Spinal canal stenosis Foot polydactyly Epileptic spasms Arnold-Chiari type I malformation Hiatus hernia Abnormal eyebrow morphology Short 5th finger Submucous cleft hard palate Missing ribs Abnormality of the gastrointestinal tract Optic nerve coloboma Lower limb asymmetry Abnormality of the neck 11 pairs of ribs Abnormality of the testis Aortic root aneurysm Congenital hypothyroidism Infantile muscular hypotonia Dysphasia Delayed gross motor development Abnormality of vision Patent foramen ovale Congenital sensorineural hearing impairment Hemiplegia/hemiparesis Delayed cranial suture closure Hypermelanotic macule Anteriorly placed anus Macule High hypermetropia Infantile spasms Abnormal heart valve morphology Absent septum pellucidum Slender long bone Neuroblastoma Neonatal hypotonia Agenesis of corpus callosum Delayed CNS myelination Falls Inguinal hernia Cleft lip Hyperlordosis Paralysis Lethargy Paresthesia Short palm Corticospinal tract hypoplasia Small hand Single transverse palmar crease Macroglossia Full cheeks Esotropia Abnormality of the cardiovascular system Broad-based gait Abnormality of metabolism/homeostasis Delayed eruption of primary teeth Hypoplasia of dental enamel External genital hypoplasia Abnormality of the skull Abnormality of the endocrine system Abnormal lung morphology Lymphopenia Short long bone Keratitis Proportionate short stature Large face Concave nasal ridge Immune dysregulation Delayed menarche Lymphoid interstitial pneumonia Open mouth Tented upper lip vermilion Taurodontia Omphalocele Lissencephaly Absent speech Midline brain calcifications Recurrent aspiration pneumonia Mood changes Premature atrial contractions Pelvic kidney Abnormality of upper lip Morphological abnormality of the middle ear Abnormality of the forearm Velopharyngeal insufficiency Head-banging Frequent temper tantrums Sleep-wake inversion Muscle weakness Dysphagia Myopathy Cerebral atrophy Excessive daytime sleepiness Everted upper lip vermilion Abnormality of the outer ear Protruding tongue Drooling Impulsivity Open bite Abnormality of the thyroid gland Progressive spastic paraplegia Broad palm Drowsiness Recurrent ear infections Chronic constipation Short attention span Bruxism Duodenal atresia Thick upper lip vermilion Broad face Deep palmar crease Dilation of lateral ventricles Volvulus Severe photosensitivity 2-3 toe syndactyly Hammertoe Unilateral renal agenesis Bifid scrotum Abnormality of dental morphology Cutis marmorata Overlapping toe Adrenal insufficiency Hyponatremia Hyperkalemia Mesomelia Atrioventricular canal defect Abnormality of digit Biparietal narrowing Ulnar deviation of finger Aplasia/Hypoplasia of the radius Proximal placement of thumb Optic nerve hypoplasia Epiphyseal stippling Dental crowding Intellectual disability, profound Cutaneous photosensitivity Choanal atresia Split hand Abnormality of the genital system Aganglionic megacolon Amblyopia Abnormality of the metacarpal bones Rhizomelia Gingival overgrowth Short thumb Hyperbilirubinemia Abnormality of dental enamel Holoprosencephaly Abnormal dermatoglyphics Hypopigmentation of hair Severe intrauterine growth retardation Oligohydramnios Hip subluxation Ectopic calcification Increased nuchal translucency Gastroschisis Broad alveolar ridges Mesomelic short stature Median cleft palate Increased serum testosterone level Advanced eruption of teeth Talipes calcaneovalgus Periventricular gray matter heterotopia Hypoplasia of the frontal lobes Abnormality of the gallbladder Septate vagina Sleep-wake cycle disturbance Alveolar ridge overgrowth Ureteropelvic junction obstruction Decreased circulating aldosterone level Abnormal eyelash morphology Tracheal stenosis Upper limb undergrowth Postaxial foot polydactyly Male pseudohermaphroditism Microglossia Severe failure to thrive Sclerocornea Excessive daytime somnolence Hypocholesterolemia Sex reversal Overlapping fingers Bifid tongue Breech presentation Bicornuate uterus Gastrointestinal dysmotility Aplasia/Hypoplasia affecting the eye Congenital diaphragmatic hernia Ambiguous genitalia Redundant neck skin Cranial nerve VI palsy Muscle flaccidity Hypoplastic labia minora Horizontal eyebrow Abnormal external genitalia Talipes valgus Abnormal social behavior Noncompaction cardiomyopathy Aortic arch aneurysm 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 Annular pancreas Abnormality of brain morphology Bilobate gallbladder Biliary tract abnormality Left ventricular noncompaction Abnormality of the spleen Delayed closure of the anterior fontanelle Rib fusion Thickened helices Colpocephaly Abnormality of chromosome stability Expressive language delay Periventricular leukomalacia Abnormal corpus callosum morphology Impaired social interactions Lambdoidal craniosynostosis Abnormality of the mandible Gastric ulcer Abnormality of the anus Widened subarachnoid space Congenital talipes calcaneovalgus Narrow forehead Iris coloboma Wide mouth Finger syndactyly Hip dislocation Micromelia Pulmonary hypoplasia Postaxial polydactyly Premature birth Proptosis Webbed neck Renal agenesis Wide intermamillary distance Dandy-Walker malformation Peripheral demyelination Limb undergrowth Postaxial hand polydactyly Skeletal dysplasia Glaucoma Aplasia/Hypoplasia involving bones of the feet Spasticity Hyperplastic labia majora Abnormal parietal bone morphology Abnormality of the cerebral ventricles Abnormality of the renal pelvis Solitary renal cyst Agenesis of the anterior commissure Ptosis Cerebellar hypoplasia Flexion contracture Fever Talipes equinovarus Intellectual disability, severe Hypertonia Syndactyly Microphthalmia Abnormality of the femoral head



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