Limb malformation involving syndactyly, median clefts
of the hands and feet, and aplasia and/or hypoplasia of the phalanges,
metacarpals, and metatarsals.
Split-Hand and Split-Foot with Mandibular Hypoplasia;
Extremely rare congenital
abnormality of unknown cause. Autosomal recessive.
At birth, the diagnosis is suspected on the
clinical aspect, oligohydramnios, and intrauterine growth retardation.
Features include severe ectrodactyly (split-hand, split-foot malformation)
associated with genital and visceral abnormalities (uterus didelphys or
unicornis, vaginal anomalies, polycystic kidney disease or hypoplastic
kidneys, diaphragmatic hernia, absent lung lobes, lung segmentation
defects). Scoliosis, pectus carinatum, and abnormal number of ribs and
vertebral size have been reported. Severe mandibular hypoplasia and low-set
ears may be additional features.
The presence of severe mandibular
hypoplasia may indicate difficult airway management; difficult tracheal
intubation must be anticipated. Electrolytes and fluid intake must
be appropriately balanced in patients with renal insufficiency.
Spontaneous ventilation should be maintained until the airway is secured.
The dosage of drugs with predominantly renal excretion must be reduced
according to the degree of renal insufficiency.
Evans JA, Phillips S, Reed M, et al: Severe acro-renal-uterine-mandibular
syndrome. Am J Med Genet