← 返回搜尋

Dysplastic cortical hyperostosis, Al-Gazali type

ORPHA:646136 · Clinical subtype · Subtype of disorder

HPO 表現型（共 31 項）

Very frequent (99-80%)(18)

  • Abnormal pelvis bone ossificationHP:0009106
  • Abnormal pinna morphologyHP:0000377
  • BrachydactylyHP:0001156
  • Broad ribsHP:0000885
  • Delayed vertebral ossificationHP:0031096
  • Depressed nasal bridgeHP:0005280
  • Generalized osteosclerosisHP:0005789
  • HypertelorismHP:0000316
  • Large fontanellesHP:0000239
  • Limb undergrowthHP:0009826
  • PolyhydramniosHP:0001561
  • Relative macrocephalyHP:0004482
  • Short 1st metacarpalHP:0010034
  • Short fingerHP:0009381
  • Short footHP:0001773
  • Short neckHP:0000470
  • Short toeHP:0001831
  • Small handHP:0200055

Frequent (79-30%)(11)

  • Hydrops fetalisHP:0001789
  • HypertrichosisHP:0000998
  • Intrauterine growth retardationHP:0001511
  • Joint stiffnessHP:0001387
  • Midface retrusionHP:0011800
  • PlatyspondylyHP:0000926
  • Pulmonary hypoplasiaHP:0002089
  • Pulmonic stenosisHP:0001642
  • Talipes equinovarusHP:0001762
  • Thickened skinHP:0001072
  • Thin upper lip vermilionHP:0000219

Occasional (29-5%)(2)

  • Fibular hypoplasiaHP:0003038
  • Wormian bonesHP:0002645