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Acromicric dysplasia

1 OMIM reference -
1 associated gene
20 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 2

Isolated ectopia lentis

3 OMIM references -
2 associated genes
11 signs/symptoms

Acromicric dysplasia

Isolated ectopia lentis

FBN1	(UniProt - OMIM)		ADAMTSL4	(UniProt - OMIM)
			FBN1	(UniProt - OMIM)


COMMON GENES	FBN1

Citations in the biomedical literature:

Acromicric dysplasia		Isolated ectopia lentis
	Synonym(s): (no synonyms)		Synonym(s): - Ectopia lentis syndrome - Familial ectopia lentis

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare eye disease - Rare genetic disease - Rare systemic or rheumatologic 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 dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: variable Average age of death: normal Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: C535662		External references: 3 OMIM references - 2 MeSH references: C536184 / D004479


COMMON SIGNS	- Autosomal dominant inheritance - Restricted joint mobility / joint stiffness / ankylosis

Acromicric dysplasia		Isolated ectopia lentis
	Very frequent - Anomalies of eyelids, eyelashes and lacrimal system - Anteverted nares / nostrils - Long philtrum - Round face - Short hand / brachydactyly - Short stature / dwarfism / nanism - Short / small nose - Small hand / acromicria Frequent - Long / large / bulbous nose - Microstomia / little mouth - Nerve conduction abnormality - Thick lips Occasional - Abnormal cry / voice / phonation disorder / nasal speech - Anomalies of spine, vertebrae and pelvis - Delayed bone age - Epiphyseal anomaly - Femur anomaly / absence / agenesis / hypoplasia / bifurcation - Metacarpal anomalies / Archibald's sign		Very frequent - Lens dislocation / luxation / subluxation / ectopia lentis Frequent - Depressed premaxillary region / midface - Intellectual deficit / mental / psychomotor retardation / learning disability - Prognathism / prognathia Occasional - Cataract / lens opacification - Chronic arterial hypertension - Nystagmus - Pupillary anomalies / mydriasis / myosis / tonic pupil - Visual loss / blindness / amblyopia