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Decreased adipose tissue around neck

MedGen UID:
Concept ID:
Synonym: Loss of adipose tissue around the neck
HPO: HP:0005995


Reduced amount of adipose tissue in the region of the neck. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDecreased adipose tissue around neck

Conditions with this feature

Mandibuloacral dysplasia with type B lipodystrophy
MedGen UID:
Concept ID:
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).
Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
Lipodystrophies are rare disorders characterized by loss of body fat from various regions and predisposition to metabolic complications of insulin resistance and lipid abnormalities. FPLD7 is an autosomal dominant disorder with a highly variable phenotype. Additional features, including early-onset cataracts and later onset of spasticity of the lower limbs, have been noted in some patients (summary by Garg et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of familial partial lipodystrophy (FPLD), see 151660.

Recent clinical studies


Sato K, Umeno H, Nakashima T
Am J Otolaryngol 2005 Jul-Aug;26(4):219-25. doi: 10.1016/j.amjoto.2004.11.019. PMID: 15991086


Aron M, Landry TG, Bance M
J Otolaryngol Head Neck Surg 2018 Feb 17;47(1):17. doi: 10.1186/s40463-018-0267-x. PMID: 29454371Free PMC Article

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