Teebi-Shaltout Syndrome

Description

Teebi-Shaltout syndrome is characterized by slow hair growth, scaphocephaly with prominent forehead, bitemporal depression, absence of primary teeth, camptodactyly, and caudal appendage with sacral dimple (summary by Aldemir et al., 2013).

Clinical Features

Teebi and Shaltout (1989) described a syndrome of craniofacial anomalies, abnormal hair, camptodactyly, and caudal appendage in the daughter of consanguineous Arab parents. Craniofacial anomalies included scaphocephaly with prominent occiput and bitemporal depression, hypertelorism, ptosis and blepharophimosis, bulbous nose with hypoplastic alae nasi, small mouth, and abnormal teeth. Froster et al. (1993) reported on a second family with the same pattern of anomalies occurring in a liveborn female and 3 spontaneously aborted fetuses. Additional findings in their cases included unilateral microphthalmia and kidney anomalies. The parents were first cousins of Tunisian descent.

Aldemir et al. (2013) reported 3 Turkish children, a sister and brother and an unrelated boy, with features suggestive of Teebi-Shaltout syndrome. The 14-year-old girl and her 10-year-old brother, born of second-cousin parents, both exhibited scaphocephaly, narrow forehead, hypertelorism, telecanthus, mild ptosis, wide nasal bridge with broad tip, underdeveloped alae nasi, smooth philtrum, and wide mouth. Ears were low-set with underdeveloped helices and small earlobes. High narrow palate with prominent palatine ridges and thick frenula, and oligodontia with delay in both primary and secondary dentition were also noted. Other features included mild camptodactyly and caudal appendage, as well as slow-growing hair and reduced sweating with normal nails. The unrelated 13-year-old boy, born of first-cousin parents, exhibited nearly identical features.