A rare genetic disorder characterized by head, hand, and genital anomalies.
Camptodactyly Fibrous Tissue Hyperplasia Skeletal Dysplasia.
Incidence and genetic inheritance
Extremely rare (two sisters and a brother); autosomal recessive.
Features include expressionless face with broad nose and flared nares, limb anomalies (camptodactyly, arachnodactyly of fingers and toes, clawhand, hammertoes, large hands), mental retardation, fibrous tissue hyperplasia, and scoliosis. Patent ductus arteriosus was present in the boy.
Involvement warrants thorough cardiovascular evaluation. Vascular access may be difficult due to the anatomical anomalies.
Other conditions to be considered
Carpenter Syndrome (Acrocephalopolysyndactyly Type II): Extremely rare autosomal recessive congenital disorder characterized by craniofacial malformations, obesity, mental retardation, and syndactyly. The most common physical manifestation is the presence of a craniosynostosis resulting in a characteristic cone head. Extra digits. Extra toes are more commonly seen than fingers. Often both toes and fingers are webbed, a process that occurs before the sixth week gestational period. Often their digits will be abnormally short, and the fingers are commonly missing an interphalangeal joint.
Tel Hashomer Camptodactyly Syndrome (THCS): Rare autosomal recessive camptodactyly with muscular involvement. The manifestations of THCS other than camptodactyly are clubbed feet, thenar and hypothenar hypoplasia, abnormal palmar creases and dermatoglyphic ridges, spina bifida, and mitral valve prolapse.
E: Camptodactyly: Occurrence in two new genetic syndromes and its relationship to other syndromes. J Med Genet
S: Tel Hashomer camptodactyly syndrome: A case report. West Indian Med J