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Craniometaphyseal dysplasia
2 OMIM references -
2 associated genes
80 connected diseases
14 signs/symptoms
Disease Type of connection
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Familial articular chondrocalcinosis
Hypoplastic left heart syndrome
Oculodentodigital dysplasia
Syndactyly type 3
Amyotrophic lateral sclerosis
Pulverulent cataract
Familial isolated congenital asplenia
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Berardinelli-Seip congenital lipodystrophy
Diffuse cutaneous systemic sclerosis
Heritable pulmonary arterial hypertension
Limited cutaneous systemic sclerosis
Familial advanced sleep-phase syndrome
Coppock-like cataract
Nuclear cataract
Posterior polar cataract
Familial atrial fibrillation
Tetralogy of Fallot
Distal 22q11.2 microdeletion syndrome
Microcephaly-capillary malformation syndrome
Acute fatty liver of pregnancy
Adult-onset autosomal dominant leukodystrophy
Autosomal dominant Charcot-Marie-Tooth disease type 2E
Autosomal dominant Emery-Dreifuss muscular dystrophy
Autosomal dominant progressive external ophthalmoplegia
Autosomal dominant spastic paraplegia type 13
Autosomal recessive cutis laxa type 2B
Blackfan-Diamond anemia
Catecholaminergic polymorphic ventricular tachycardia
Charcot-Marie-Tooth disease type 1F
Childhood-onset nemaline myopathy
Chronic intestinal pseudoobstruction
Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy
Congenital fiber-type disproportion myopathy
Congenital myopathy with excess of thin filaments
Congenital short bowel syndrome
Congenital stromal corneal dystrophy
Congenital valvular dysplasia
Distal myopathy with posterior leg and anterior hand involvement
Ehlers-Danlos syndrome with periventricular heterotopia
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Frontometaphyseal dysplasia
Geroderma osteodysplastica
Glycogen storage disease due to aldolase A deficiency
Gyrate atrophy of choroid and retina
Hereditary spherocytosis
Hyperlipidemia type 3
Hypomyelination with atrophy of basal ganglia and cerebellum
Hypomyelination with brain stem and spinal cord involvement and leg spasticity
Inflammatory myofibroblastic tumor
Intermediate nemaline myopathy
Isolated CoQ-cytochrome C reductase deficiency
Isolated NADH-CoQ reductase deficiency
Leigh syndrome with leukodystrophy
Lipoprotein glomerulopathy
Lissencephaly due to TUBA1A mutation
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Long chain acyl-CoA dehydrogenase deficiency
Mitochondrial trifunctional protein deficiency
Muscle filaminopathy
Osteodysplasty, Melnick-Needles type
Otopalatodigital syndrome type 1
Otopalatodigital syndrome type 2
PYCR1-related DeBarsy syndrome
Pelizaeus-Merzbacher-like due to HSPD1 mutation
Periventricular nodular heterotopia
Primary dystonia, DYT4 type
Sea-blue histiocytosis
Severe congenital nemaline myopathy
Severe early-onset axonal neuropathy due to NEFL deficiency
Spinocerebellar ataxia type 26
Terminal osseous dysplasia - pigmentary defects
Translocation renal cell carcinoma
Typical nemaline myopathy
Young adult-onset Parkinsonism
Spinocerebellar ataxia type 14
X-linked non-syndromic intellectual deficit

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
2 OMIM references -
No MeSH references

Gene symbol UniProt reference OMIM reference
ANKH Q9HCJ1605145
GJA1 P17302121014
Very frequent
- Autosomal dominant inheritance
- Broad nasal root
- Dense / thickened skull / calvarium / cranial / facial hyperostosis
- Depressed nasal bridge
- Hypertelorism
- Metaphyseal anomaly
- Osteosclerosis / osteopetrosis / bone condensation

- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Telecanthus / canthal dystopy

- Conductive deafness / hearing loss
- Cranial nerve anomalies
- Facial palsy
- Sensorineural deafness / hearing loss
- Visual loss / blindness / amblyopia