Mandibuloacral dysplasia with type B lipodystrophy- MedGen UID:
- 332940
- •Concept ID:
- C1837756
- •
- Disease or Syndrome
Mandibuloacral dysplasia with type B lipodystrophy (MADB) is a rare autosomal recessive disorder characterized by postnatal growth retardation, craniofacial anomalies such as mandibular hypoplasia, skeletal anomalies such as progressive osteolysis of the terminal phalanges and clavicles, and skin changes such as mottled hyperpigmentation and atrophy. The lipodystrophy is characterized by generalized loss of subcutaneous fat involving the face, trunk, and extremities. Some patients have a progeroid appearance. Metabolic complications associated with insulin resistance have been reported (Schrander-Stumpel et al., 1992; summary by Simha et al., 2003).
For a general phenotypic description of lipodystrophy associated with mandibuloacral dysplasia, see MADA (248370).
Rapadilino syndrome- MedGen UID:
- 336602
- •Concept ID:
- C1849453
- •
- Disease or Syndrome
The RAPADILINO syndrome is an autosomal recessive disorder characterized by short stature, radial ray defects and other malformations, and infantile diarrhea. The acronym is derived from hallmark features: RA for radial; PA for both absent/hypoplastic patellas and cleft/highly arched palate; DI for diarrhea, as well as dislocated joints; LI for little size and limb malformations; and NO for long, slender nose and normal intelligence. RAPADILINO belongs to the Finnish disease heritage (Kaariainen et al., 1989; Siitonen et al., 2003).
Mandibuloacral dysplasia with type A lipodystrophy- MedGen UID:
- 1757618
- •Concept ID:
- C5399785
- •
- Disease or Syndrome
Mandibuloacral dysplasia with type A lipodystrophy (MADA) is an autosomal recessive disorder characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. The lipodystrophy is characterized by a marked acral loss of fatty tissue with normal or increased fatty tissue in the neck and trunk. Some patients may show progeroid features. Metabolic complications can arise due to insulin resistance and diabetes (Young et al., 1971; Simha and Garg, 2002; summary by Garavelli et al., 2009).
See also MAD type B (MADB; 608612), which is caused by mutation in the ZMPSTE24 gene (606480).
Inflammatory poikiloderma with hair abnormalities and acral keratoses- MedGen UID:
- 1824066
- •Concept ID:
- C5774293
- •
- Disease or Syndrome
Inflammatory poikiloderma with hair abnormalities and acral keratoses (IPHAK) is characterized by mottled hyper- and hypopigmentation of the skin as well as sparse scalp hair and eyelashes, sparse or absent eyebrows, and palmoplantar keratoses (Han et al., 2022).