ODCs

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1 OMIM reference -
1 associated gene
17 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 4

1 OMIM reference -
1 associated gene
6 signs/symptoms

Keratoderma hereditarium mutilans

Knuckle pads-leuconychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome

GJB2

Citations in the biomedical literature:

Keratoderma hereditarium mutilans		Knuckle pads-leuconychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
	Synonym(s): - Mutilating keratoderma of Vohwinkel - Mutilating keratoderma plus deafness - PPK mutilans and deafness - Vohwinkel syndrome		Synonym(s): - Bart-Pumphrey syndrome - Knuckle pads-leuconychia-sensorineural deafness-palmoplantar keratoderma syndrome

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

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

	Epidemiological data: Class of prevalence: - Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: (no data available)

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Autosomal dominant inheritance - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Palmoplantar hyperkeratosis / keratoderma - Sensorineural deafness / hearing loss

Keratoderma hereditarium mutilans		Knuckle pads-leuconychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
	Very frequent - Anomalies of cartilages, joints and periarticular tissue Frequent - Intellectual deficit / mental / psychomotor retardation / learning disability - Late puberty / hypogonadism / hypogenitalism Occasional - Alopecia - Anomalies of spine, vertebrae and pelvis - Auto-aggressivity / auto-mutilation - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Dysplastic / thick / grooved toenails - Follicular / erythematous / edematous papules / milium - Hearing loss / hypoacusia / deafness - Ichthyosis / ichthyosiform dermatitis - Nails anomalies - Osteolysis / osteoclasia / bone destruction / erosions		Very frequent - Abnormal nails colour / leukonychia / melanonychia - Subcutaneous nodules / lipomas / tumefaction / swelling