Macrocephaly, and Progressive hearing impairment

Diseases related with Macrocephaly and Progressive hearing impairment

In the following list you will find some of the most common rare diseases related to Macrocephaly and Progressive hearing impairment that can help you solving undiagnosed cases.

Top matches:

High match CINCA SYNDROME

Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs.

CINCA SYNDROME Is also known as multisystem inflammatory disease, neonatal-onset|nomid syndrome|iomid syndrome|infantile-onset multisystem inflammatory disease|prieur-griscelli syndrome|neonatal-onset multisystem inflammatory disease|chronic neurologic cutaneous and articular syndrome|c

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about CINCA SYNDROME

Muckle-Wells syndrome (MWS) is an intermediate form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type).

MUCKLE-WELLS SYNDROME Is also known as neutrophilic urticaria

Related symptoms:

  • Short stature
  • Anemia
  • Hepatomegaly
  • Fever
  • Optic atrophy


SOURCES: ORPHANET MENDELIAN

More info about MUCKLE-WELLS SYNDROME

Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade.

MUCOPOLYSACCHARIDOSIS TYPE 2, SEVERE FORM Is also known as mucopolysaccharidosis type ii, severe form|mps2a|iduronate 2-sulfatase deficiency type a|mucopolysaccharidosis type 2a|hunter syndrome type a|mpsiia|mucopolysaccharidosis type iia

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS TYPE 2, SEVERE FORM

Other less relevant matches:

D-bifunctional protein deficiency is a disorder of peroxisomal fatty acid beta-oxidation. See also peroxisomal acyl-CoA oxidase deficiency (OMIM ), caused by mutation in the ACOX1 gene (OMIM ) on chromosome 17q25. The clinical manifestations of these 2 deficiencies are similar to those of disorders of peroxisomal assembly, including X-linked adrenoleukodystrophy (ALD ), Zellweger cerebrohepatorenal syndrome (see {214100}) and neonatal adrenoleukodystrophy (NALD; see {601539}) (Watkins et al., 1995).DBP deficiency has been classified into 3 subtypes depending upon the deficient enzyme activity. Type I is a deficiency of both 2-enoyl-CoA hydratase and 3-hydroxyacyl-CoA dehydrogenase; type II is a deficiency of hydratase activity alone; and type III is a deficiency of dehydrogenase activity alone. Virtually all patients with types I, II, and III have a severe phenotype characterized by infantile-onset of hypotonia, seizures, and abnormal facial features, and most die before age 2 years. McMillan et al. (2012) proposed a type IV deficiency on the basis of less severe features; these patients have a phenotype reminiscent of Perrault syndrome (PRLTS1 ). Pierce et al. (2010) noted that Perrault syndrome and DBP deficiency overlap clinically and suggested that DBP deficiency may be underdiagnosed.

D-BIFUNCTIONAL PROTEIN DEFICIENCY Is also known as peroxisomal bifunctional enzyme deficiency|dbp deficiency|17-beta-hydroxysteroid dehydrogenase iv deficiency|pbfe deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about D-BIFUNCTIONAL PROTEIN DEFICIENCY

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 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

PCNA-related progressive neurodegenerative photosensitivity syndrome is a rare neurodegenerative disease caused by homozygous mutations in the PCNA gene and characterized by neurodegeneration, postnatal growth retardation, prelingual sensorineural hearing loss, premature aging, ocular and cutaneous telangiectasia, learning difficulties, photophobia, and photosensitivity with evidence of predisposition to sun-induced malignancy. Progressive neurologic deterioration leads to gait disturbances, muscle weakness, speech and swallowing difficulties and progressive cognitive decline.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about PCNA-RELATED PROGRESSIVE NEURODEGENERATIVE PHOTOSENSITIVITY SYNDROME

Infantile cerebellar-retinal degeneration is a rare, neurodegenerative disorder characterized by an early onset of truncal hypotonia, variable forms of seizures, athetosis, severe global developmental delay, intellectual disability and various ophthalmologic abnormalities, including strabismus, nystagmus, optic atrophy and retinal degeneration.

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about INFANTILE CEREBELLAR-RETINAL DEGENERATION

Medium match NORRIE DISEASE

Norrie disease (ND) is a rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders.

NORRIE DISEASE Is also known as episkopi blindness|norrie-warburg disease|atrophia bulborum hereditaria

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about NORRIE DISEASE

Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli).

AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1 Is also known as arcl1|autosomal recessive cutis laxa with severe systemic involvement|cutis laxa, autosomal recessive|autosomal recessive cutis laxa, pulmonary emphysema type

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Sensorineural hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1

Top 5 symptoms//phenotypes associated to Macrocephaly and Progressive hearing impairment

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Hearing impairment Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Sensorineural hearing impairment Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Macrocephaly and Progressive hearing impairment. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Seizures Microcephaly Optic atrophy Abnormal facial shape Hepatomegaly Failure to thrive Progressive sensorineural hearing impairment Visual impairment Inguinal hernia Behavioral abnormality Depressed nasal bridge Visual loss Arthralgia Congestive heart failure Glaucoma Edema Frontal bossing Growth delay Umbilical hernia Full cheeks Developmental regression Retinal degeneration Strabismus Kyphosis Abdominal pain Corneal opacity Kyphoscoliosis Coarse facial features Recurrent respiratory infections Joint stiffness Severe global developmental delay Nystagmus Skeletal muscle atrophy Generalized hypotonia Cerebellar atrophy Long philtrum Pectus excavatum Osteopenia Scoliosis Macroglossia Muscular hypotonia Flexion contracture Pes cavus Hernia Mitral regurgitation Recurrent otitis media Micrognathia Abnormality of the cardiovascular system Hypertension Sleep disturbance Cataract Anemia Increased intracranial pressure Splenomegaly Proptosis Cerebral cortical atrophy Hepatosplenomegaly Ataxia Cryptorchidism

Rare Symptoms - Less than 30% cases

Cognitive impairment Delayed cranial suture closure Intellectual disability, severe Muscle weakness Autism Osteoporosis Diabetes mellitus Feeding difficulties Delayed speech and language development Aplasia/Hypoplasia of the cerebellum Wide nasal bridge Abnormality of the dentition Vesicoureteral reflux Malar flattening Depressivity Abnormality of the eye Dolichocephaly Split hand Joint hyperflexibility Protruding ear Irritability Attention deficit hyperactivity disorder Pulmonic stenosis Hypoplasia of the corpus callosum Joint laxity Dilatation Hypospadias Anxiety Progressive visual loss Delayed skeletal maturation Pneumonia High forehead Macrotia Elevated hepatic transaminase Feeding difficulties in infancy Hypothyroidism Hypotelorism Hypertonia Bladder diverticulum Constipation Intellectual disability, profound Everted lower lip vermilion Neurodegeneration Epicanthus Broad nasal tip Abnormality of the vasculature Supravalvular aortic stenosis Microdontia Cardiomegaly Myocardial infarction Thick vermilion border Abnormal form of the vertebral bodies Gingival overgrowth Abnormality of dental enamel Opacification of the corneal stroma Vascular tortuosity Widely spaced teeth Arterial stenosis Cor pulmonale Pulmonary artery stenosis Prematurely aged appearance Large earlobe Retinopathy Dysarthria Apnea Mental deterioration Pallor Wide mouth Hyperreflexia Craniosynostosis Ptosis Spasticity Abnormality of the diencephalon Stroke Recurrent urinary tract infections Carious teeth Abnormality of eye movement Increased body weight Cutis laxa Redundant skin Genu valgum Retinal fold Respiratory distress Arrhythmia Limitation of joint mobility Recurrent upper respiratory tract infections Vasculitis Communicating hydrocephalus Reduced bone mineral density Low-set ears Urticaria Elevated erythrocyte sedimentation rate Arthropathy Abnormality of the skull Insomnia Protuberant abdomen Protruding tongue Heart murmur Thickened skin Overgrowth Abnormality of the face Uveitis Mitral valve prolapse Abnormality of the voice Ascites Restrictive ventilatory defect Aggressive behavior Dyspnea Prominent forehead Short neck Hernia of the abdominal wall Anteverted nares Abnormality of the skeletal system Delayed puberty Beaking of vertebral bodies Heparan sulfate excretion in urine Blindness Arthritis Skin rash J-shaped sella turcica Myalgia EEG abnormality Urinary glycosaminoglycan excretion Skeletal dysplasia Abnormality of mucopolysaccharide metabolism Nausea and vomiting Camptodactyly of finger Dermatan sulfate excretion in urine Migraine Hypertelorism Fever Wormian bones Abnormality of the neck Unilateral renal agenesis Obsessive-compulsive behavior Villous atrophy Chronic otitis media Nephritis Polycystic ovaries Enuresis Abnormality of the cerebral vasculature Dysphonia Portal hypertension Hypercalcemia Precocious puberty Tubulointerstitial nephritis Radioulnar synostosis Hypercalciuria Cholelithiasis Abnormality of dental morphology Shock Failure to thrive in infancy Arachnodactyly Multiple renal cysts Glucose intolerance Hypoplastic toenails Facial cleft Recurrent fractures Oligohydramnios Down-sloping shoulders Poor coordination Soft skin Nevus flammeus Arnold-Chiari type I malformation Vocal cord paralysis Posterior embryotoxon Abnormality of lipid metabolism Blue irides Megalocornea Restlessness Congenital diaphragmatic hernia Tracheoesophageal fistula High hypermetropia Bilateral sensorineural hearing impairment Hemolytic anemia Celiac disease Vertebral segmentation defect Premature graying of hair Hypoplasia of the zygomatic bone Hallux valgus Open bite Loss of consciousness Chronic constipation Polyuria Patellar dislocation Right ventricular hypertrophy Incoordination Stereotypy Abnormality of pelvic girdle bone morphology Ascending tubular aorta aneurysm Hypsarrhythmia Coarctation of aorta Abnormality of extrapyramidal motor function Hypoplasia of penis Atelectasis Narrow forehead Ileus Tetralogy of Fallot Dehydration Renal agenesis Otitis media Esotropia Dental malocclusion Chest pain Premature skin wrinkling Sudden cardiac death Hypodontia Postural instability Dermal translucency Oral cleft Congenital hemolytic anemia Dysmetria Smooth philtrum Malabsorption Neurological speech impairment Small for gestational age Broad forehead Arterial fibromuscular dysplasia Bowel diverticulosis Type II diabetes mellitus Shawl scrotum Adducted thumb Hypogonadotrophic hypogonadism Arnold-Chiari malformation Schizophrenia Infantile muscular hypotonia Ischemic stroke Sacral dimple Bicuspid aortic valve Abnormal dermatoglyphics Aortic aneurysm Spina bifida occulta Abnormality of the fingernails Nephrocalcinosis Cerebral ischemia Hemivertebrae Pointed chin Ventricular hypertrophy Increased bone mineral density Narrow face Hoarse voice Aortic valve stenosis Amblyopia Nephrolithiasis Epiphyseal dysplasia Involuntary movements Open mouth Hemiparesis Thick lower lip vermilion Small nail Emphysema Renal hypoplasia Dyslexia Phonophobia Abnormality of refraction Photophobia Retinal dysplasia Abnormality of the helix Muscular hypotonia of the trunk Acidosis Agenesis of corpus callosum Hyporeflexia Areflexia Encephalopathy Peripheral neuropathy Conjunctival telangiectasia Progressive muscle weakness Telangiectasia Cutaneous photosensitivity Unsteady gait Immunodeficiency Metabolic acidosis Stellate iris Remnants of the hyaloid vascular system Early onset of sexual maturation Retinoblastoma Scarring Dyssynergia Venous insufficiency Functional abnormality of male internal genitalia Dysphagia Descending aorta hypoplasia Vocal cord dysfunction Atrophy/Degeneration involving the corticospinal tracts Anterior synechiae of the anterior chamber Abnormal pupil morphology Abnormality of the retinal vasculature Retinal dystrophy Generalized-onset seizure Shallow anterior chamber Abnormality of immune system physiology Psychosis Retinal detachment Hallucinations Clonus Intellectual disability, progressive Cachexia Ectopia lentis Self-injurious behavior Abnormal retinal morphology Thin vermilion border Confusion Narrow nasal bridge Abnormality of the nervous system Deeply set eye Myoclonus Progressive microcephaly Poor eye contact Bradycardia Athetosis Hyperglycemia Vitreoretinopathy Muscle fibrillation Sclerocornea Central apnea Severe vision loss Demyelinating peripheral neuropathy Vegetative state Neoplasm Microphthalmia Dementia Hypoplasia of the iris Exudative vitreoretinopathy Overfriendliness Gait imbalance Increased nuchal translucency Obsessive-compulsive trait Aortic arch aneurysm Overriding aorta Tubulointerstitial abnormality Neoplasm of the eye Anterior chamber synechiae Abnormality of the ankles Vascular neoplasm Colonic diverticula Renal duplication Aplasia/Hypoplasia of the iris Abnormal endocardium morphology Thyroid hypoplasia Retinal vascular tortuosity Abnormal glucose tolerance Synostosis of joints Hip dislocation Periorbital fullness Decreased plasma carnitine Peripheral pulmonary artery stenosis Subvalvular aortic stenosis Abnormal renal morphology Lacrimation abnormality Cystic renal dysplasia Urethral stenosis Peptic ulcer Periorbital edema Rectal prolapse Dysgraphia Abnormality of nervous system morphology Parathyroid hyperplasia Nocturia Uterine rupture Nystagmus-induced head nodding Abnormal vitreous humor morphology Thyroid hemiagenesis Abnormal chorioretinal morphology Leukocoria Bilateral vocal cord paralysis Elfin facies Medial flaring of the eyebrow Abnormal carotid artery morphology Paroxysmal bursts of laughter Myxomatous mitral valve degeneration Unilateral renal hypoplasia Erectile abnormalities Phthisis bulbi Calcification of the aorta Posterior synechiae of the anterior chamber Impaired visuospatial constructive cognition Abnormality of the bladder Food intolerance Renal artery stenosis Coronary artery stenosis Retinal arteriolar tortuosity Hyperacusis Pelvic kidney Aplasia/Hypoplasia of the lens Infantile hypercalcemia Corneal degeneration Abnormal cochlea morphology Abnormality of the gastric mucosa Retinopathy of prematurity Renovascular hypertension Abnormal social behavior Flat cornea Abnormal cardiac septum morphology Cervical myelopathy Blepharophimosis Aspiration pneumonia Cardiomyopathy Hydrocephalus Respiratory insufficiency Generalized cerebral atrophy/hypoplasia Calcific stippling Fetal ascites Renal cortical microcysts Chylous ascites Cerebral hypoplasia Cerebral dysmyelination Enterocolitis Bile duct proliferation Corpus callosum atrophy Undetectable electroretinogram Adrenal hypoplasia Diarrhea Large fontanelles Abdominal distention Gliosis Peripheral demyelination Cholestasis Heterotopia Pachygyria Aspiration Scaphocephaly Decreased nerve conduction velocity Hammertoe Decreased muscle mass Thoracic hypoplasia Cortical dysplasia Primary adrenal insufficiency Vomiting Headache Hepatic steatosis Long eyelashes Progressive neurologic deterioration Hypertrichosis Encephalocele Decreased body weight Left ventricular hypertrophy Chronic diarrhea Abnormality of epiphysis morphology Lumbar hyperlordosis Exotropia Abnormal vertebral morphology Elbow flexion contracture Generalized hirsutism Coxa valga Spastic paraparesis Interphalangeal joint contracture of finger Abnormality of the ribs Conductive hearing impairment Thick eyebrow Abnormal pyramidal sign Nyctalopia Pectus carinatum Synophrys Dry skin Abnormality of skin pigmentation Hirsutism Hip dysplasia Wide nose Inability to walk High, narrow palate Delayed eruption of teeth Asthma Abnormality of the skin Renal cyst Polymicrogyria Aortic regurgitation Abnormality of neutrophils Recurrent aphthous stomatitis Abnormality of the nose Broad foot Abnormal palate morphology Cranial nerve paralysis Conjunctivitis Abnormality of the genital system Nephrotic syndrome Nephropathy Ichthyosis Abnormality of metabolism/homeostasis Abnormal granulocyte morphology Retrobulbar optic neuritis Pseudopapilledema Inflammatory abnormality of the eye Renal amyloidosis Joint dislocation Brachydactyly Fatigue Papule Lymphadenopathy Premature birth Meningitis Purpura Elevated C-reactive protein level Leukocytosis Abnormal joint morphology Amyloidosis Juvenile rheumatoid arthritis Abnormal thrombocyte morphology Delayed closure of the anterior fontanelle Episcleritis Hyperactivity Talipes Talipes equinovarus Intervertebral space narrowing Focal seizures, afebril Dysplastic aortic valve Localized skin lesion Abnormality of nasopharyngeal adenoids High palate Ventriculomegaly Anisopoikilocytosis Upslanted palpebral fissure Polyhydramnios Retrognathia Neonatal hypotonia Abnormality of the liver Abnormality of the cerebral white matter Short digit Morphological abnormality of the central nervous system Mandibular prognathia Distal arthrogryposis Postnatal growth retardation Tachycardia Cyanosis Pulmonary arterial hypertension Tachypnea Pericardial effusion Edema of the lower limbs Obstructive lung disease Increased mean corpuscular volume Thoracolumbar kyphosis Inspiratory stridor Hypochromic anemia Hyperplasia of the maxilla Abnormality of the optic disc Coxa vara Cerebral palsy Paralysis Abnormality of lysosomal metabolism Abnormality of the tympanic membrane Abnormality of glycosaminoglycan metabolism Increased size of nasopharyngeal adenoids Abnormality of the wing of the ilium Broad long bone diaphyses Bullet-shaped phalanges of the hand Proximal tapering of metacarpals Enlarged vertebral pedicles Deformed humerus Thick skull base Delayed tarsal ossification Abnormality of joint mobility Broad ischia Flaring of rib cage Mandibular condyle hypoplasia Abnormal mandible coronoid process morphology Lumbar kyphosis Abnormality of the middle ear ossicles Calvarial hyperostosis Thoracolumbar kyphoscoliosis Short mandibular rami Cervical kyphosis Abnormal CNS myelination Abnormality of the pubic bone Cervical subluxation Hypoplasia of the femoral head Calcification of falx cerebri Abnormality of the tonsils C1-C2 subluxation Enlarged tonsils Hypoplastic cervical vertebrae Stiff interphalangeal joints Abnormality of premolar morphology Abnormal hand morphology Proteinuria Elevated serum creatine phosphokinase Clinodactyly of the 5th finger Cerebellar hypoplasia Micropenis Gastroesophageal reflux Pes planus Hypertrophic cardiomyopathy Patent ductus arteriosus Cleft lip Intellectual disability, moderate Low-set, posteriorly rotated ears Abnormality of the kidney Hyperlordosis Autistic behavior Abnormal heart morphology Obesity Abnormal mandibular ramus morphology Gait disturbance Delayed ossification of the hand bones Cleft palate Pain Myopia Intrauterine growth retardation Tremor Ventricular septal defect Absent speech Atrial septal defect Myopathy Intellectual disability, mild Short nose Renal insufficiency Midface retrusion Enlargement of the wrists Hip subluxation Corneal dystrophy Obstructive sleep apnea Hypoplasia of the odontoid process Palpebral edema Peripheral visual field loss Shallow orbits Abnormality of the elbow Recurrent lower respiratory tract infections Abnormality of the clavicle Thoracic scoliosis Gingivitis Diastasis recti Dysostosis multiplex Abnormality of the respiratory system Tracheal stenosis Upper airway obstruction Short clavicles Rhinitis Angina pectoris Stridor Sleep apnea Hyperammonemia Prominent supraorbital ridges Back pain Hemiplegia Language impairment Toe walking Spinal canal stenosis Metatarsus adductus Multiple joint contractures Flared metaphysis Coronary artery atherosclerosis Abnormal heart valve morphology Thickened calvaria Hypoplastic ilia Conical tooth Atlantoaxial dislocation Anterior open bite Biconcave vertebral bodies Mucopolysacchariduria Large face Sclerosis of skull base Difficulty standing Abnormal nerve conduction velocity Meckel diverticulum Recurrent ear infections Narrow pelvis bone Flared nostrils Large sella turcica Anterior rib cupping Prominent sternum Abnormality of the gingiva Chronic rhinitis Abnormal diaphysis morphology Flared iliac wings Abnormal aortic valve morphology Foam cells Pulmonary edema Abnormal mitral valve morphology Seborrheic dermatitis Endocardial fibroelastosis Constrictive median neuropathy Hypoplasia of teeth Diaphyseal thickening Sagittal craniosynostosis Myelopathy Abnormality of peripheral nerve conduction Rhinorrhea Broad femoral neck Delayed ossification of carpal bones Renal diverticulum


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