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that the hip actually dislocated.

Mesoaxial synostotic syndactyly with phalangeal reduction MSSD represents a distinctive combination of clinical features that includes mesoaxial osseous synostosis at a metacarpal level, reduction of one or more phalanges, hypoplasia of distal phalanges of preaxial and postaxial digits, clinodactyly of fifth fingers, and preaxial fusion of toes Malik et al.

However, some mutation carriers may be less severely affected with borderline or even normal IQ, suggesting incomplete penetrance of the phenotype summary by Heinzen et al.

Pontocerebellar hypoplasia type 13 PCH13 is an autosomal recessive disorder characterized by global developmental delay, impaired intellectual development with absent speech, microcephaly, and progressive atrophy of the cerebellar vermis and brainstem.

Individuals that do survive may have growth deficiency, severe developmental delay, and central nervous system malformations such as holoprosencephaly.

Genetic Heterogeneity of Seckel Syndrome Other forms of Seckel syndrome include SCKL2 606744 , caused by mutation in the RBBP8 gene 604124 on chromosome 18q11; SCKL4 613676 , caused by mutation in the CENPJ gene 609279 on chromosome 13q12; SCKL5 613823 , caused by mutation in the CEP152 gene 613529 on chromosome 15q21; SCKL6 614728 , caused by mutation in the CEP63 gene 614724 on chromosome 3q22; SCKL7 614851 , caused by mutation in the NIN gene 608684 on chromosome 14q22; SCKL8 615807 , caused by mutation in the DNA2 gene 601810 on chromosome 10q21; SCKL9 616777 , caused by mutation in the TRAIP gene 605958 on chromosome 3p21; and SCKL10 617253 , caused by mutation in the NSMCE2 gene 617246 on chromosome 8q24.

A dermatoglyphical study of metacarpophalangeal creases.

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Ehlers-Danlos syndrome spondylodysplastic type 1 is characterized by short stature, developmental anomalies of the forearm bones and elbow, and bowing of extremities, in addition to the classic stigmata of Ehlers-Danlos syndrome, including joint laxity, skin hyperextensibility, and poor wound healing.

photo by Janelle Aby, MD Clinodactyly A slight medial incurvation of the fifth finger is a frequent finding on the newborn exam.

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In boys who present with learning disabilities or adjustment problems at school, Klinefelter syndrome should be a consideration.