Hydrocephalus, and Left ventricular hypertrophy

Diseases related with Hydrocephalus and Left ventricular hypertrophy

In the following list you will find some of the most common rare diseases related to Hydrocephalus and Left ventricular hypertrophy that can help you solving undiagnosed cases.


Top matches:

High match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5; MDDGA5


Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 (OMIM ), collectively known as 'dystroglycanopathies' (Beltran-Valero de Bernabe et al., 2004).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5; MDDGA5 Is also known as walker-warburg syndrome or muscle-eye-brain disease, fkrp-related

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Cataract
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5; MDDGA5

High match LETHAL POLYMALFORMATIVE SYNDROME, BOISSEL TYPE


Lethal polymalformative syndrome, Boissel type is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by failure to thrive, severe developmental delay, severe postanatal microcephaly, frequent congenital cardiac defects and characteristic facial dysmorphysm (including coarse face with anteverted nostrils, thin vermillion, prominent alveolar ridge and retro- or micrognatia). Additional common features include neurologic abnormalities (hyper-/hypotonia, sensorineural deafness, hydrocephalus, cerebral atrophy, seizures), as well as brachydactyly, cutis marmorata and genital anomalies.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LETHAL POLYMALFORMATIVE SYNDROME, BOISSEL TYPE

Medium match LARSEN-LIKE SYNDROME, B3GAT3 TYPE


Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported.

LARSEN-LIKE SYNDROME, B3GAT3 TYPE Is also known as multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome|larsen syndrome, autosomal recessive, formerly

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LARSEN-LIKE SYNDROME, B3GAT3 TYPE

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Other less relevant matches:

Medium match GORLIN-CHAUDHRY-MOSS SYNDROME


Gorlin-Chaudhry-Moss (GCM) syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysostosis, facial dysmorphism, conductive hearing loss, generalized hypertrichosis, and extremity, ocular and dental anomalies.

GORLIN-CHAUDHRY-MOSS SYNDROME Is also known as gcm syndrome|gorlin-chaudhry-moss syndrome|craniofacial dysostosis, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies, patent ductus arteriosus, and normal intelligence|craniofacial dysostosis-genital, dental, cardiac anomalies syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about GORLIN-CHAUDHRY-MOSS SYNDROME

Medium match HURLER SYNDROME


Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy.

HURLER SYNDROME Is also known as mpsih|mps1h|mps1-h|mucopolysaccharidosis type 1h|mucopolysaccharidosis type ih|hurler disease

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HURLER SYNDROME

Medium match GAUCHER DISEASE-OPHTHALMOPLEGIA-CARDIOVASCULAR CALCIFICATION SYNDROME


Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement.

GAUCHER DISEASE-OPHTHALMOPLEGIA-CARDIOVASCULAR CALCIFICATION SYNDROME Is also known as cardiovascular gaucher disease|gaucher-like disease|gaucher disease type 3c

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about GAUCHER DISEASE-OPHTHALMOPLEGIA-CARDIOVASCULAR CALCIFICATION SYNDROME

Medium match NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR


Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome (see this term); a distinctive hair anomaly described as loose anagen hair syndrome (see this term); frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis (see this term); and short stature, often associated with a GH deficiency and psychomotor delays.

NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR Is also known as ns/lah|tosti syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR

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 CARDIOMYOPATHY, DILATED, 1D; CMD1D


CARDIOMYOPATHY, DILATED, 1D; CMD1D Is also known as left ventricular noncompaction 6, included|lvnc6, included

Related symptoms:

  • Ventriculomegaly
  • Cardiomyopathy
  • Congestive heart failure
  • Dilatation
  • Dyspnea


SOURCES: OMIM MESH MENDELIAN

More info about CARDIOMYOPATHY, DILATED, 1D; CMD1D

Low match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2; MDDGB2


MDDGB2 is an autosomal recessive congenital muscular dystrophy associated with mental retardation and mild structural brain abnormalities (Yanagisawa et al., 2007). It is part of a group of similar disorders, collectively known as 'dystroglycanopathies,' resulting from defective glycosylation of alpha-dystroglycan (DAG1 ) (Godfrey et al., 2007).For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2; MDDGB2 Is also known as muscular dystrophy, congenital, pomt2-related

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2; MDDGB2

Top 5 symptoms//phenotypes associated to Hydrocephalus and Left ventricular hypertrophy

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Hearing impairment Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Anteverted nares Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Hydrocephalus and Left ventricular hypertrophy. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Growth delay

Uncommon Symptoms - Between 30% and 50% cases


Ventricular hypertrophy

Common Symptoms - More than 50% cases


Short stature

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Cardiomyopathy Mitral regurgitation Abnormal facial shape Cryptorchidism Micrognathia Hypertelorism Feeding difficulties Ventriculomegaly Respiratory distress Failure to thrive Brachydactyly Wide nasal bridge Ventricular septal defect Short neck Hypoplasia of the corpus callosum Hernia Long philtrum Seizures Patent ductus arteriosus Umbilical hernia Depressed nasal bridge Downslanted palpebral fissures Congestive heart failure Delayed skeletal maturation Prominent forehead Brachycephaly Microcephaly Low-set ears Strabismus Respiratory insufficiency Hyporeflexia Corneal opacity High, narrow palate Failure to thrive in infancy Hypertrichosis Abnormality of the cerebral white matter Severe global developmental delay Muscular hypotonia Dilatation Flexion contracture Generalized hirsutism Low posterior hairline Cardiomegaly Frontal bossing Synophrys Midface retrusion Abnormal heart morphology Cerebellar hypoplasia Microdontia Cerebral cortical atrophy Narrow mouth Proptosis Pes cavus Cognitive impairment Pectus carinatum Delayed speech and language development Decreased body weight Protruding tongue Macroglossia Patent foramen ovale Myopia Motor delay Muscle weakness Sensorineural hearing impairment Cleft palate Atrial septal defect Posteriorly rotated ears Micropenis Gastroesophageal reflux Pachygyria Conductive hearing impairment Metatarsus adductus Hypermetropia Dandy-Walker malformation Retrognathia Craniosynostosis Bicuspid aortic valve Abnormal heart valve morphology

Rare Symptoms - Less than 30% cases


Anteriorly placed anus Hepatomegaly Everted lower lip vermilion Dermal translucency Postnatal growth retardation Coronal craniosynostosis Abnormality of the skull Hypertension Intestinal malrotation Macrocephaly Coarse hair Natal tooth Abnormality of the pinna Abnormality of the dentition Short nose Abnormality of vision Cerebellar vermis hypoplasia Sparse scalp hair Scrotal hypoplasia Sparse hair Heterotopia Wide anterior fontanel Abnormality of the eye Mandibular prognathia Abnormal mitral valve morphology Abnormality of the skeletal system Arnold-Chiari type I malformation Opacification of the corneal stroma Aortic regurgitation Increased intracranial pressure Heart murmur Abnormality of the testis Left ventricular noncompaction Hiatus hernia Abnormality of the elbow Communicating hydrocephalus Abnormality of the ribs Infantile muscular hypotonia Coarctation of aorta Low-set, posteriorly rotated ears Foam cells Hypothyroidism Abnormality of cardiovascular system morphology Epicanthus High palate Abnormality of the pulmonary artery Interphalangeal joint contracture of finger Hip dysplasia Vomiting Neonatal hypotonia Behavioral abnormality Splenomegaly Kyphosis Constipation Dyspnea Hepatosplenomegaly Pallor Abnormal aortic valve morphology Joint stiffness Retinopathy Abnormality of the skin Myopathy Camptodactyly of finger Dolichocephaly Thickened helices Dilated cardiomyopathy Redundant neck skin Endocardial fibroelastosis Carious teeth Dry skin Nystagmus Spinal canal stenosis Deep palmar crease Abnormal cardiac septum morphology Webbed neck Lissencephaly Cataract Intrauterine growth retardation Thick eyebrow Hypertonia Absent speech Intellectual disability, profound Genu valgum Abnormality of the foot Pulmonic stenosis Obesity Hip dislocation Microtia Coarse facial features Elbow flexion contracture Abnormality of skin pigmentation Hypertrophic cardiomyopathy Muscular dystrophy Osteopenia Kyphoscoliosis Glaucoma Inguinal hernia Wide mouth Coloboma Thin vermilion border Bifid uvula Delayed myelination Microphthalmia Elevated serum creatine phosphokinase Congenital muscular dystrophy Small nail Restrictive ventilatory defect Aortic root aneurysm Abnormally large globe 11 pairs of ribs Broad neck Horizontal nystagmus Superior pectus carinatum Spasticity Abnormality of the intervertebral disk Generalized tonic-clonic seizures Ophthalmoplegia Pancytopenia Peripheral pulmonary artery stenosis Slow-growing hair Abnormality of refraction Aortic valve stenosis Retinal detachment Abnormal EKG Enlarged cisterna magna Loose anagen hair Oculomotor apraxia Atopic dermatitis Cachexia Hypomagnesemia Fragile nails Exertional dyspnea Mitral stenosis High myopia Abnormal location of ears Supranuclear ophthalmoplegia Freckling Clinodactyly of the 5th finger Abnormality of the kidney Aggressive behavior Hydronephrosis Increased size of nasopharyngeal adenoids Abnormality of glycosaminoglycan metabolism Abnormality of the tympanic membrane Deeply set eye EEG abnormality Autism Hypogonadism Upslanted palpebral fissure Agenesis of corpus callosum Clinodactyly Broad fingertip Hypospadias Cerebral atrophy Stiff interphalangeal joints Malar flattening Abnormal mandible coronoid process morphology Abnormality of premolar morphology Dysphagia Gait disturbance Optic atrophy Visual impairment Abnormality of the nasal bridge Abnormal mandibular ramus morphology Delayed ossification of the hand bones Cerebellar cyst Neurodevelopmental delay Spontaneous, recurrent epistaxis Ptosis Hypotrichosis Attention deficit hyperactivity disorder Corneal crystals Hypoglycemia High forehead Macrotia Hypoplasia of the brainstem Hyperactivity Pectus excavatum Hypoplasia of the pons Aqueductal stenosis Cerebellar dysplasia Cardiovascular calcification Joint hypermobility Mitral valve calcification Aortic arch calcification Abnormal common carotid artery morphology Hypometric horizontal saccades Slowed horizontal saccades Cardiac valve calcification Abnormality of toe Decreased beta-glucocerebrosidase protein and activity Bacterial endocarditis Calcification of the aorta Elevated serum acid phosphatase Abnormal aortic arch morphology Ichthyosis Abnormal saccadic eye movements Abnormality of coagulation Type II lissencephaly Aplasia/Hypoplasia of the eyebrow Right bundle branch block Hypoplastic toenails Overfolded helix Nasal speech Deep philtrum Relative macrocephaly Optic nerve hypoplasia Arnold-Chiari malformation Supranuclear gaze palsy Severe muscular hypotonia Abnormal palate morphology Abnormality of the fingernails Growth hormone deficiency Camptodactyly Hoarse voice Hyperpigmentation of the skin Abnormal aortic morphology Cafe-au-lait spot Thin skin Thick lower lip vermilion Reticular hyperpigmentation Aortic valve calcification Eczema Cyanosis Wide intermamillary distance Hypocalcemia Polymicrogyria Feeding difficulties in infancy Abnormality of the mandible Abnormal social behavior Talipes valgus Abnormal external genitalia Horizontal eyebrow Hypoplastic labia minora Muscle flaccidity Annular pancreas Aortic arch aneurysm Abnormality of brain morphology Expressive language delay Abnormality of the optic disc Abnormality of the anus Gastric ulcer Abnormality of female external genitalia Noncompaction cardiomyopathy Lambdoidal craniosynostosis Impaired social interactions Abnormal corpus callosum morphology Periventricular leukomalacia Cavum septum pellucidum Abnormality of chromosome stability Biliary tract abnormality Abnormal left ventricle morphology Abnormal renal physiology Colpocephaly Rib fusion Delayed closure of the anterior fontanelle Abnormality of the spleen Volvulus Cranial nerve VI palsy Asymmetry of the ears Dilation of lateral ventricles Atrial fibrillation Abnormality of the periventricular white matter Calf muscle hypertrophy Skeletal muscle hypertrophy Open mouth Pigmentary retinopathy Generalized muscle weakness Hyperlordosis Facial palsy Proximal muscle weakness Respiratory failure Areflexia Intellectual disability, severe Right ventricular dilatation Hypokinesia Agenesis of the anterior commissure Oppositional defiant disorder Solitary renal cyst Abnormality of the renal pelvis Abnormality of the cerebral ventricles Abnormal parietal bone morphology Hyperplastic labia majora Aplasia/Hypoplasia involving bones of the feet Congenital talipes calcaneovalgus Bilobate gallbladder Widened subarachnoid space Abnormality of the femoral neck Ebstein anomaly of the tricuspid valve Bifid ribs Hypoplastic female external genitalia Abnormality of the hairline Delayed CNS myelination Abnormality of the neck Abnormality of the liver Optic disc pallor Leukoencephalopathy Hypercholesterolemia Cranial nerve paralysis Abnormal intestine morphology Spastic tetraparesis Narrow palpebral fissure Pointed chin Short phalanx of finger Stereotypy Telangiectasia Large fontanelles Depressed nasal ridge Tetraparesis Hypsarrhythmia Hypoplasia of penis Sacral dimple Tetralogy of Fallot Abnormal blistering of the skin Epileptic encephalopathy Brain atrophy Renal cyst Short foot Hepatic steatosis Broad long bone diaphyses Oral cleft Cleft upper lip Poor speech Small for gestational age Neurological speech impairment Blepharophimosis Aplasia/Hypoplasia of the corpus callosum Delayed gross motor development Lower limb asymmetry Slender long bone Optic nerve coloboma Abnormality of the gastrointestinal tract Missing ribs Short 5th finger Ocular albinism Abnormal eyebrow morphology Self-mutilation Overweight Epileptic spasms Abnormal lung lobation Foot polydactyly Submucous cleft hard palate Congenital hypothyroidism Neuroblastoma Telangiectasia of the skin Pyloric stenosis Absent septum pellucidum Abnormality of the immune system Infantile spasms High hypermetropia Macule Polyphagia Hypermelanotic macule Dysphasia Delayed cranial suture closure Hemiplegia/hemiparesis Congenital sensorineural hearing impairment Clitoral hypertrophy Self-injurious behavior Hand polydactyly Abnormality of the wing of the ilium C1-C2 subluxation Bullet-shaped phalanges of the hand Recurrent aspiration pneumonia Diarrhea Narrow chest Edema Skeletal muscle atrophy Talipes Arachnodactyly Aplasia/Hypoplasia of the nasal bone Aplastic/hypoplastic lacrimal glands Congenital craniofacial dysostosis Hypoplasia of the abdominal wall musculature Wide nasal ridge Absent distal phalanges Upper eyelid coloboma Absence of subcutaneous fat Depressivity Flat face Hypoplasia of the musculature Pneumothorax Absent nipple Prominent superficial veins Premature skin wrinkling Abnormal eyelid morphology Sclerocornea Recurrent fractures Turricephaly Underdeveloped supraorbital ridges Hypoplastic nipples Prematurely aged appearance Headache Visual loss Esotropia Skull asymmetry Asthma Full cheeks Broad nasal tip Delayed eruption of teeth Sleep disturbance Neurodegeneration Thick vermilion border Inability to walk Wide nose Hirsutism Retinal degeneration Periorbital fullness Abnormality of eye movement Fever Arrhythmia Stroke Nyctalopia Abnormal pyramidal sign Talipes equinovarus Osteoporosis Mental deterioration Apnea Elevated hepatic transaminase Skeletal dysplasia Abdominal pain Pes planus Recurrent respiratory infections Pneumonia Joint laxity Short metacarpal Reduced subcutaneous adipose tissue Severe failure to thrive Overlapping fingers Sandal gap Cutis laxa Hyperextensible skin Radioulnar synostosis Spondyloepiphyseal dysplasia Bilateral talipes equinovarus Thin upper lip vermilion Thoracic hypoplasia Congenital glaucoma Narrow nasal bridge Syndactyly Intellectual disability, mild Upper limb undergrowth Generalized osteoporosis Platyspondyly Bilateral elbow dislocations Metacarpophalangeal joint hyperextensibility Broad distal phalanges of all fingers Spatulate thumbs Prominent antitragus Enlarged metaphyses Accessory carpal bones Hypertropia Shoulder dislocation Multiple joint dislocation Talipes equinovalgus Knee dislocation Lumbar scoliosis Abnormality of the abdominal wall Broad forehead Accelerated skeletal maturation Anonychia Amblyopia Bilateral cryptorchidism Tricuspid regurgitation Large hands Aortic aneurysm Redundant skin Mitral valve prolapse Abnormality of the metacarpal bones Oligodontia Congenital diaphragmatic hernia Blue sclerae Low anterior hairline Abnormal lung morphology Recurrent urinary tract infections Rhizomelia Smooth philtrum Lymphedema Short palpebral fissure Meningitis Pulmonary arterial hypertension Oligohydramnios Convex nasal ridge Sepsis Triangular face Hypoplasia of the maxilla Joint dislocation Microretrognathia Short distal phalanx of finger Pulmonary hypoplasia Astigmatism Limitation of joint mobility Cutis marmorata Proximal tapering of metacarpals Large face Atlantoaxial dislocation Abnormality of the gingiva J-shaped sella turcica Prominent sternum Anterior rib cupping Large sella turcica Flared nostrils Narrow pelvis bone Meckel diverticulum Anterior open bite Abnormal nerve conduction velocity Difficulty standing Sclerosis of skull base Mucopolysacchariduria Heparan sulfate excretion in urine Biconcave vertebral bodies Chronic rhinitis Retinal fold Recurrent ear infections Abnormal diaphysis morphology Diaphyseal thickening Delayed ossification of carpal bones Broad femoral neck Rhinorrhea Abnormality of peripheral nerve conduction Myelopathy Sagittal craniosynostosis Hypoplasia of teeth Agyria Hip subluxation Abnormal hand morphology Seborrheic dermatitis Abnormality of the tonsils Enlarged vertebral pedicles Deformed humerus Thick skull base Delayed tarsal ossification Abnormality of joint mobility Broad ischia Flaring of rib cage Abnormality of lysosomal metabolism Mandibular condyle hypoplasia Cervical subluxation Hypoplastic cervical vertebrae Enlarged tonsils Small face Calcification of falx cerebri Enlargement of the wrists Hypoplasia of the femoral head Abnormality of the pubic bone Abnormality of mucopolysaccharide metabolism Dermatan sulfate excretion in urine Lumbar kyphosis Abnormal CNS myelination Cervical kyphosis Short mandibular rami Urinary glycosaminoglycan excretion Hernia of the abdominal wall Thoracolumbar kyphoscoliosis Calvarial hyperostosis Cervical myelopathy Abnormality of the middle ear ossicles Constrictive median neuropathy Severe hydrocephalus Progressive visual loss Abnormal vertebral morphology Back pain Prominent supraorbital ridges Recurrent upper respiratory tract infections Hyperammonemia Sleep apnea Corneal dystrophy Progressive hearing impairment Widely spaced teeth Cerebral palsy Coxa vara Abnormality of dental enamel Spastic paraparesis Coxa valga Exotropia Language impairment Gingival overgrowth Abnormality of epiphysis morphology Thickened skin Long eyelashes Chronic diarrhea Encephalocele Abnormal form of the vertebral bodies Split hand Recurrent otitis media Progressive neurologic deterioration Myocardial infarction Lumbar hyperlordosis Short chin Abnormality of the cardiovascular system Hemiplegia Stridor Pulmonary edema Abnormality of the clavicle Flared iliac wings Cor pulmonale Conical tooth Angina pectoris Hypoplastic ilia Upper airway obstruction Large earlobe Beaking of vertebral bodies Tracheal stenosis Abnormality of the respiratory system Dysostosis multiplex Diastasis recti Gingivitis Obstructive sleep apnea Toe walking Recurrent lower respiratory tract infections Shallow orbits Peripheral visual field loss Protuberant abdomen Palpebral edema Hypoplasia of the odontoid process Short clavicles Thoracic scoliosis Rhinitis Arthropathy Thickened calvaria Coronary artery atherosclerosis Flared metaphysis Multiple joint contractures Left ventricular systolic dysfunction



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Corneal opacity, related diseases and genetic alterations Abnormality of the skeletal system and Arachnodactyly, related diseases and genetic alterations Fever and Umbilical hernia, related diseases and genetic alterations

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