ADULT is an acronym for
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
Propping P, Friedl W, Wienker TF, et al: ADULT syndrome allelic to limb
mammary syndrome (LMS)? Am J Med Genet
Propping P, Zerres K: ADULT syndrome: An autosomal dominant disorder with
pigment anomalies, ectrodactyly, nail dysplasia and hypodontia. Am J Med Genet