Isolated split hand-split foot malformation

Split hand-split foot malformation (SHFM) refers to a spectrum of genetically and clinically heterogenous terminal limb defect (see this term) characterized by hypoplasia/ absence of central rays of the hands and feet (that can occur in one to all four digits), median clefts of the hands and/ or feet, aplasia and syndactyly, with a wide range of severity ranging from malformed central finger/ toe to a lobster claw-like appearance of the hands and feet. SHFM can be an isolated malformation or can be a feature in various syndromes (ADULT syndrome, EEC syndrome; see these terms). SHFM usually follows an autosomal dominant pattern of inheritance with incomplete penetrance, but autosomal recessive and rarely X-linked inheritance have also been reported.

Bilateral cleft lip

A non-midline cleft of the upper lip on the left and right sides.

Total: 2

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PMID (PMCID)
9839359	OTHER	Infant, Newborn
	Infant with midline thoracoabdominal schisis and limb defects.
	Pivnick EK, Kaufman RA, Velagaleti GV, Gunther WM, Abramovici D. Teratology. 1998;58(5):205-8.
	An infant presented with multiple congenital anomalies including a midline thoracoabdominal defect, absence of the sternum, ectopia cordis, right diaphragmatic hernia, right anophthalmia, left microphthalmia, incomplete bilateral cleft lip, and various limb defects including ectrodactyly of the right hand and left foot, and phocomelia of the right lower extremity.
3837261	MALE	Infant, Newborn
	[Neurogenic hypernatremia with adipsia and cerebral malformations in a child with ectrodactyly-ectodermal dysplasia-cleft lip-palate syndrome].
	Ronconi GF, Ronconi M, Stella M, Soffiati G, Pesenti P. Pediatr Med Chir. 1985;7(6):893-7.
	Syndrome in this baby is characterized by: ectrodactyly of the feet, syndactyly of the 3rd and 4th finger of the hands, bilateral cleft lip and cleft palate, bilateral microtia, lacrimal ductular stenosis.