NeurometPlus

Incidence

Arthrochalasic EDS is transmitted as an autosomal dominant trait and has a very low incidence.

Clinical Characteristics

Ehlers-Danlos syndromes (EDS) are a heterogeneous group of inherited disorders of connective tissue characterized by hyperextensible skin and joints and tissue friability. The new classification defines 6 clinical forms among which the arthrochalasic form formerly divided into types VIIA and VIIB. It is marked by bilateral congenital hip dislocation, hyperextensible joints, and recurrent partial dislocations. Other signs include hyperextensible skin, friable tissues with atrophic scars, and muscular hypotonia. The following symptoms and signs are very frequently found: hypotonia, speech defect, dislocated hip, abnormal scarring, hyperelastic skin, joint dislocation, short stature/dwarfism, restricted joint mobility.It has an autosomal dominant inheritance. Frequent signs include scoliosis, hypertelorism, epicanthic folds, depressed nasal bridge, micrognatia/retrognatia. The clinical diagnosis is confirmed by the biochemical study of collagen I aminoterminal propeptides in cultured fibroblasts, or by molecular biology evidencing partial or total skipping of exon 6 in the COL1A1 or COL1A2 genes. Arthrochalasic EDS patients should be managed by pluridisciplinary teams. The following symptoms and signs are very frequently found: hypotonia,speech defect, dislocated hip, abnormal scarring, hyperelastic skin, joint dislocation, short stature/dwarfism, restricted joint mobility. Frequent signs include scoliosis, hypertelorism, epicanthic folds, depressed nasal bridge, micrognatia/retrognatia.There is inguinal hernia (Occasional sign).

Precipitants

none

Provocation Tests

none

Diagnostic Procedures

The clinical diagnosis is confirmed by the biochemical study of collagen I aminoterminal propeptides in cultured fibroblasts, or by molecular biology evidencing partial or total skipping of exon 6 in the COL1A1 or COL1A2 genes.