HistoryThis section has been translated automatically.
DefinitionThis section has been translated automatically.
Very rare, autosomal dominant inherited syndrome, so far described in 2 families. "ADULT" is an acronym for acro, dermato, ungual, lacrimal, tooth.
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EtiopathogenesisThis section has been translated automatically.
mutation in the p63 gene mapped on chromosome 3q27. The transcription co-activator p63 is crucial for the correct development of the extremities and ectodermal adnexa (nails, hair, glands). Gene mutations lead to corresponding malformation syndromes.
Clinical featuresThis section has been translated automatically.
There may be significant differences in the appearance and severity of the syndrome (slight to full-blown with all possible disorders).
- Cleft palate or cleft lip and palate.
- Mostly cleft hand and foot.
- Eye: Atresia of the lacrimal-nasal ducts, photophobia, chronic blepharitis and conjunctivitis, dacryocystitis, blepharophimosis.
- Mouth: partial anodontics or microdontics.
- Hair: Blond, sparse, curly; hypoplasia of eyebrows and eyelashes.
- Nail dysplasia, hypoplasia of nipples, lentigines.
Note(s)This section has been translated automatically.
Mutations in the p63 gene are found in several syndromes, including non-syndromal hand and foot clefts, EEC syndrome (ectrodactyly-ectodermal-dysplasia-cleft-lip/palate syndrome), LMS syndrome (limb-mammary syndrome), Hay-Wells syndrome.
LiteratureThis section has been translated automatically.
- Amiel J et al (2001) TP63 gene mutation in ADULT syndrome. Eur J Hum Genet 9: 642-645
- Brunner HG et al (2002) The p63 gene in EEC and other syndromes. J Med Genet 39: 377-381
- Duijf PH et al (2002) Gain-of-function mutation in ADULT syndrome reveals the presence of a second transactivation domain in p63. Hum Mol Genet 11: 799-804
- Geddes JF, Whitwell HL (2003) Shaken adult syndrome revisited. On J Forensic Med Catholic 24: 310-311
- O'Brien KE et al (2002) Prenatal diagnosis of acro-dermatoungual-lacrimal-tooth syndrome, a dominantly inherited ectrodactyly. J Ultrasound Med 21: 921-925
- Propping P, Zerres K (1993) ADULT-syndromes: an autosomal dominant disorder with pigment anomalies, ectrodactyly, nail dysplasia, and hypodontia. On J Med Genet 45: 642-648
- Propping P et al (2000) ADULT syndrome allelic to limb mammary syndrome (LMS)? At J Med Genet 90: 179-182
Outgoing links (1)Eec syndrome;
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