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At a glance

A syndrome that is characterized by cleft hand and tibial aplasia with ectrodactyly.

Synonyms

Aplasia of Tibia with Ectrodactyly; Split-Hand-Foot Malformation with Long Bone Deficiency; Tibial Aplasia with Split-Hand-Foot Deformity; Tibial Aplasia with Split-Hand-Split-Foot Deformity; SHFLD; Split-Hand-Foot Deformity with Long Bone Deficiency.

Incidence

Approximately 1:1,000,000 in the general population.

Genetic inheritance

Despite the fact that consanguinity is common in the parents of affected children, inheritance is believed to be most often autosomal dominant with markedly reduced penetrance. The defect in SHFLD1 has been mapped to chromosome 1q42.2-q43, in SHFLD2 to chromosome 6q14.1, and to chromosome 17p13.3 in SHFLD3 affecting the BHLHA9 (Basic Helix-Loop-Helix Family, Member A9) gene. The expression of the phenotype is variable even within affected families.

Clinical aspects

The syndrome consists of uni- or bilateral aplasia of the tibia (in 59% of cases) and split-hand/foot deformities (also called ectrodactyly or lobster-claw deformity; present in 74%). Other anomalies may include hypoplasia or aplasia of the ulnae (in 12%), distal hypoplasia or bifurcation of the femora (in 8%; also known as Gollop-Wolfgang complex: distal forked femur with tibial agenesis and ectrodactyly), aplasia of patellae (in 7%), clubfoot, hypoplastic big toes (in 6%), postaxial and intermediate polydactyly (in 4%), syndactyly, camptodactyly, tetramonodactyly, and cup-shaped ears (in two patients). A significant proportion of these patients are unable to walk without assistance. Hand malformations may further limit their ability to support themselves.

Precautions before anesthesia

Evaluate the severity of the disease to prepare for intraoperative positioning. Routine preoperative assessment is considered adequate since these patients are otherwise healthy.

Anesthetic considerations

Positioning may be challenging due to the complex anomalies of the extremities, and ample padding is required to avoid pressure sores and nerve injuries. Peripheral venous access on hands and feet may be difficult and ultrasound guidance helpful.

Pharmacological implications

None specific to this disorder.

Other conditions to be considered

  • Ectrodactyly (Absent Finger Syndrome): Ectrodactyly describes a situation where at least one entire digit (both metacarpal/metatarsal and phalanges) is missing. It is a nonspecific term applied to a variety of malformations.

  • Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip-Palate (EEC; EEC Syndrome; Cleft Lip/Cleft Palate-Lobster-Claw Deformity Syndrome; Ectrodactyly-Cleft Lip/Palate Syndrome; Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome; Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome; Split Hand-Cleft Lip/Palate and Ectodermal [SCE] Dysplasia; Walker-Clodius Syndrome): Autosomal dominant inherited syndrome with facial dysmorphism (mild malar hypoplasia, maxillary hypoplasia, cleft lip and palate, choanal atresia), ocular and urogenital anomalies and occasionally mental retardation, and central diabetes insipidus.

  • Gollop Wolfgang Syndrome (Tibial Hemimelia; Bifid Femur-Monodactylous Ectrodactyly Syndrome; Tibial Agenesis; Gollop Complex; Gollop Wolfgang Complex): Rare congenital malformation that is characterized by ectrodactyly of the hand, distal ipsilateral bifurcation ...

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