Adult syndrome L98.89

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 29.10.2020

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Propping, 1993

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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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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 features
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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.

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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.

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  1. Amiel J et al (2001) TP63 gene mutation in ADULT syndrome. Eur J Hum Genet 9: 642-645
  2. Brunner HG et al (2002) The p63 gene in EEC and other syndromes. J Med Genet 39: 377-381
  3. 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
  4. Geddes JF, Whitwell HL (2003) Shaken adult syndrome revisited. On J Forensic Med Catholic 24: 310-311
  5. O'Brien KE et al (2002) Prenatal diagnosis of acro-dermatoungual-lacrimal-tooth syndrome, a dominantly inherited ectrodactyly. J Ultrasound Med 21: 921-925
  6. 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
  7. 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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Last updated on: 29.10.2020