Hyperphalangy

Hyperphalangy is a congenital, non-syndromic limb malformation characterized by the presence of an accessory phalanx between metacarpal/metatarsal and proximal phalanx, or between any two other phalanges of a digit, excluding the thumb. Hypherphalangy is almost always bilateral and patients present no more than five digits and no other skeletal anomalies.

Pierre-Robin sequence

Pierre Robin malformation is a sequence of developmental malformations characterized by micrognathia (mandibular hypoplasia), glossoptosis and cleft palate.

Total: 3

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PMID (PMCID)
26366375 (4563870)	OTHER
	Catel-Manzke Syndrome: Further Delineation of the Phenotype Associated with Pathogenic Variants in TGDS.
	Pferdehirt R, Jain M, Blazo MA, Lee B, Burrage LC. Mol Genet Metab Rep. 2015;4:89-91.
	Catel-Manzke syndrome is a rare autosomal recessive disorder characterized by Pierre Robin sequence with hyperphalangy and clinodactyly of the index finger.
26366375 (4563870)	OTHER
	Catel-Manzke Syndrome: Further Delineation of the Phenotype Associated with Pathogenic Variants in TGDS.
	Pferdehirt R, Jain M, Blazo MA, Lee B, Burrage LC. Mol Genet Metab Rep. 2015;4:89-91.
	Here, we describe a 12-month-old male with molecularly confirmed Catel-Manzke syndrome who presented with Pierre Robin sequence (but without cleft palate) and hyperphalangy, and we compare his phenotype with the seven previously described patients with pathogenic variants in TGDS.
6540680	MIXED_SAMPLE	Infant, Newborn
	Pierre Robin sequence and hyperphalangy--a genetic entity (Catel-Manzke syndrome).
	Brude E. Eur J Pediatr. 1984;142(3):222-3.
	Pierre Robin sequence and hyperphalangy--a genetic entity (Catel-Manzke syndrome).