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At a glance

Unilateral defects of the hand with absent portions of digits.

Synonym

Unilateral Terminal Transverse Defects of Hand.

Incidence

While the incidence of congenital distal phalangeal defects (either aphalangia or adactylia) affects approximately 1 in 90,000 newborns, isolated defects as described here are much rarer and without detectable inheritance.

Genetic inheritance

The disorder has only been found in three females to date, but autosomal dominant has been considered.

Diagnosis

Based on the clinical findings.

Clinical aspects

The hand anomaly affects one hand only and is characterized by absence of the distal portions of digits II to V and a mildly hypoplastic thumb. Small nail remnants can be detected on the remaining digital stumps. There are no signs of soft tissue syndactyly. One woman (the propositus’ mother) had hypoplastic metacarpals of digits II to IV of the right hand with a hypoplastic proximal phalanx on digit V. Her daughter (the propositus) had no ossifications of the second and third metacarpals or any of the phalanges on the left hand at the age of 2 years and the metacarpals of digit I, IV, and V were hypoplastic. Similar changes were found on the left hand of the mother’s twin sister (the propositus’ aunt), except that the ossified phalangeal remnant occurred on digit II and III. In all three cases, the other hand and both feet were anatomically, radiologically, and physiologically normal and no other defects were present.

Precautions before anesthesia

Routine peroperative assessment.

Anesthetic considerations

There are no known or expected specific considerations in this condition with regards to anesthesia.

Pharmacological implications

None specific to this syndrome.

Other conditions to be considered

  • Acrorenal-Mandibular Syndrome (Acrorenal-Uterine-Mandibular Syndrome [ARUMS]; Split-Hand and Split-Foot with Mandibular Hypoplasia Syndrome): Limb malformations with ectrodactyly, renal and uterine anomalies, and mandibular hypoplasia.

  • Carnevale-Hernandez-Castillo-Torres Syndrome (Triphalangeal Thumbs and Brachyectrodactyly Syndrome): Disorder characterized by triphalangeal thumbs, brachy (syn-) dactyly, and occasionally ectrodactyly of hands and feet.

  • Ectrodactyly Ectodermal Dysplasias Clefting Syndrome (EEC Syndrome; Cleft Lip/Cleft Palate–Lobster-Claw Deformity Syndrome; Ectrodactyly-Cleft Lip/Palate Syndrome; Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/PalateSyndrome; Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome; Split Hand-Cleft Lip/Palate and Ectodermal [SCE] Dysplasia; Walker-Clodius Syndrome): Autosomal dominant inherited anomaly complex charac­terized by ectrodactyly of hands and feet, ectodermal dysplasia, and cleft lip/palate.

  • Hypoglossia-Hypodactylia Syndrome (Aglossia-Adactyly Syndrome; Akroteriasis Congenita; Hanhart Syndrome; Mandibular Dysostosis and Peromelia Syndrome; Oroacral Syndrome; Oromandibular Limb Hypoplasia Syndrome; Peromelia with Micrognathism): Congenital acrofacial dysostosis obvious at birth. Characterized by an absent or incompletely developed tongue (hypoglossia), absent or partially missing fingers and/or toes (ectrodactylia), micrognathia, and malformation of arms and/or legs (peromelia).

  • Karsch-Neugebauer Syndrome: Most likely autosomal dominant inherited syndrome ...

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