autosomal recessive cutis laxa type 2
A spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic ARCL2 (ARCL, Debre) type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS).
MONDO:0019704
obsolete primary bone dysplasia with decreased bone density (obsolete MONDO:0019704)
excluded_subClassOf
MONDO:0006025
autosomal recessive disease
is_a
MONDO:0015327
developmental anomaly of metabolic origin
is_a
MONDO:0017355
inborn disorder of proline metabolism
is_a
MONDO:0018230
skeletal dysplasia
is_a
MONDO:0100237
inherited cutis laxa
is_a
ARCL2
exact
cutis laxa with joint laxity and developmental delay
exact
SPAPYUG7.05 SPAC11E3.07 SPAC16E8.07c SPAC343.05