ODCs

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1 OMIM reference -
1 associated gene
16 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

1 OMIM reference -
1 associated gene
14 signs/symptoms

EEM syndrome

Growth delay due to insulin-like growth factor I resistance


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CDH3	(0.63)	IGF1R

Citations in the biomedical literature:

EEM syndrome		Growth delay due to insulin-like growth factor I resistance
	Synonym(s): - Ectodermal dysplasia - ectrodactyly - macular dystrophy		Synonym(s): - Resistance to IGF-1

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	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: unknown Average age onset: neonatal/infancy Average age of death: no data available Type of inheritance: autosomal dominant

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


COMMON SIGNS	- Autosomal recessive inheritance

EEM syndrome		Growth delay due to insulin-like growth factor I resistance
	Very frequent - Decreased body hair / axillar / pubic hairlessness - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Macular dystrophy / absence / hypoplasia of the macula - 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 - Autosomal dominant inheritance - Chromosomal or genetic anomaly - Intrauterine growth retardation - Short stature / dwarfism / nanism Frequent - Abnormally placed nipples - Broad nasal root - Everted lower lip - Intellectual deficit / mental / psychomotor retardation / learning disability - Microcephaly - Pectus excavatum - Philtrum flat / large / featureless / absent cupidon bows - Short hand / brachydactyly - Thin / retracted lips