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The middle phalanges' (often those of the 2nd, 3rd and 5th digits of the hands) angel shape is caused by an abnormal development of the epiphysis, metaphysis, and diaphysis of said phalanges; the wings are formed by an abnormal dyaphysis, the angel's skirt is from a cone-shaped epiphysis, and the head is formed by an abnormal distal pseudoepophysis.
The signs of this trait are having a thumb with a distal phalange that is able to bend backwards beyond the normal range of motion. Some people with hitchhiker's thumb also have a Z-shaped deformity, named after the appearance of this deformity, which is that of the letter Z. Example of a z-shaped deformity in a hitchhiker's thumb
Gross clubbing – Thickening of the whole distal (end part of the) finger (resembling a drumstick) Hypertrophic osteoarthropathy – Shiny aspect and striation of the nail and skin; Schamroth's sign or Schamroth's window test (originally demonstrated by South African cardiologist Leo Schamroth on himself) [16] is a popular test for clubbing.
This deformity is caused by a widening of the epiphyseal plate of the fifth finger's distal phalange. [12] Another proposed cause involves the abnormal insertion of the flexor digitorum profundus in the volar area of the fifth finger's distal phalange. [13] It is thought to be an autosomal dominant trait with reduced penetrance. [14]
Clinical features include gingival fibromatosis, hypoplasia of the distal phalanges, nail dysplasia, joint hypermobility, and sometimes hepatosplenomegaly. [7] The nose and pinnae are usually large and poorly developed, which give individuals with the syndrome characteristic facial features. Intellectual disability may also be seen.
There is a sequential order of findings, according to Cormode et al., which initiate in abnormal cartilage calcification and later brachytelephalangism. [8] The uniqueness of brachytelephalangy in KS results in distinctively broadened and shortened first through fourth distal phalanges, while the fifth distal phalanx bone remains unaffected. [9]
Pycnodysostosis also causes problems that may become evident with time. Aside from the broken bones, the distal phalanges and the collar bone can undergo slow progressive deterioration. Vertebral defects may permit the spine to curve laterally resulting in scoliosis. The dental problems often require orthodontic care and cavities are common.
Yunis–Varon syndrome (YVS), also called cleidocranial dysplasia with micrognathia or absent thumbs and distal aphalangia, [1] [2] is an extremely rare [3] autosomal recessive [4] multisystem congenital disorder [5] which affects the skeletal system, ectodermal tissue, heart and respiratory system.