ODCs

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1 OMIM reference -
1 associated gene
16 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 3

1 OMIM reference -
1 associated gene
16 signs/symptoms

EEM syndrome

Hypotrichosis with juvenile macular degeneration

CDH3

Citations in the biomedical literature:

EEM syndrome		Hypotrichosis with juvenile macular degeneration
	Synonym(s): - Ectodermal dysplasia - ectrodactyly - macular dystrophy		Synonym(s): - HJMD - Hypotrichosis with juvenile macular dystrophy

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic 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: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal recessive

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


COMMON SIGNS	- Autosomal recessive inheritance - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Macular dystrophy / absence / hypoplasia of the macula

EEM syndrome		Hypotrichosis with juvenile macular degeneration
	Very frequent - Decreased body hair / axillar / pubic hairlessness - Oligodactyly / ectrodactyly of fingers - Retinitis pigmentosa / retinal pigmentary changes - Retinopathy - Tooth shape anomaly Frequent - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Absent / decreased / thin eyebrows - Anodontia / oligodontia / hypodontia - Anomalies of eyes and vision - Complete / partial microdontia - Multiple caries - Syndactyly of fingers / interdigital palm Occasional - Strabismus / squint		Very frequent - Macular pigmentary anomaly / cherry-red spot - Short stature / dwarfism / nanism - Visual loss / blindness / amblyopia Frequent - Brittle hair / distrix / trichorrhexis - Fine hair - Pili torti Occasional - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Excessive freckling - Global upper and lower limbs anomalies - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Nystagmus - Pigmented naevi / naevus pigmentosus / lentigo - Severe allergic reaction / atopy