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ADULT is an acronym for Acro-Dermato-Ungual-Lacrimal-Tooth. The main findings are hypodontia, very brittle and/or premature loss of permanent teeth, and ectrodactyly (split hands and feet). There is no evident impairment of general health in patients with ADULT syndrome.

Extremely rare. Autosomal dominant with variable expression. No genetic background or molecular data are available.

The main findings are hypodontia and/or premature loss of permanent teeth, ectrodactyly (split hands and feet), occasionally with oligodactyly, dermal and/or osseous syndactyly. The breasts (glands and nipples) may be absent or hypoplastic. Absence or obstruction of the nasolacrimal ducts, sparse hair (alopecia areata, frontal baldness), skin atrophy, excessive freckling, and onychodysplasia may be seen. Radiologic findings: Ectrodactyly on x-ray films.

There is no evident impairment of general health in patients with ADULT syndrome. The main anesthetic consideration is the teeth. They are very brittle and may be easily broken or avulsed during direct laryngoscopy. Use of regional anesthesia and analgesia provides a reasonable alternative in patients with this syndrome.

Ectrodactyly, Ectodermal Dysplasia, and Clefting (EEC) Syndrome: Autosomal dominant inherited syndrome with maxillary hypoplasia, mild malar hypoplasia, cleft lip/palate, choanal atresia, hearing loss, photophobia and blepharophimosis, dacryocystitis, cryptorchidism, hypogonadotropic hypogonadism renal agenesis or dysplasia, hydronephrosis, occasionally mental retardation, central diabetes insipidus.

Limb Mammary Syndrome: Very rare syndrome characterized by severe anomalies of the hands and feet in combination with hypoplasia or aplasia of the mammary gland and nipple. As in ADULT syndrome, the lacrimal duct can be atretic or obstructed, and the nails may be thickened and dystrophic. Hypodontia and cleft palate have been described. A later study placed the ADULT syndrome gene locus in the same chromosome region as the LMS locus, thereby suggesting the two conditions are allelic.

AEC Syndrome: Disorder characterized by cleft lip/palate, unilateral or bilateral fusion of the eyelids, hair anomalies, onychodystrophy, hypohidrosis, and dental anomalies. The mutation has been mapped to 3q27, like all the aforementioned disorders.

Schinzel Syndrome: Very rare autosomal dominant syndrome characterized by bone malformations and apocrine deficiency. Anesthetic management must consider difficult intubation, renal dysfunction, and the possibility of hyperthermia.

Absence of Ulna and Fibula with Severe Limb Deficit (Al Awadi Teebi Farag Syndrome, Limb/PelvisHypoplasia/Aplasia Syndrome; Al-Awadi Raas-Rothschild Syndrome; Schinzel Phocomelia Syndrome): Autosomal recessive with severe deficiency of all four limbs, including absent feet, hypoplastic femora, absent ulnae, absent fibulae, thoracic dystrophy, and pelvic deformity.

Propping P, Friedl W, Wienker TF, et al: ADULT syndrome allelic to limb mammary syndrome (LMS)? Am J Med Genet 90:179, 2000.  [PubMed: 10607963]
Propping P, Zerres K: ADULT syndrome: An autosomal dominant disorder with pigment anomalies, ectrodactyly, nail dysplasia and hypodontia. Am J Med Genet 45:642, 1993.  [PubMed: 8456838]

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