← 返回搜尋

Carpenter syndrome

ORPHA:65759 · Malformation syndrome · Disorder

HPO 表現型（共 40 項）

Obligate (100%)(3)

  • BrachydactylyHP:0001156
  • Finger syndactylyHP:0006101
  • Toe syndactylyHP:0001770

Very frequent (99-80%)(18)

  • Abnormal skull morphologyHP:0000929
  • Clinodactyly of the 5th fingerHP:0004209
  • CraniosynostosisHP:0001363
  • CryptorchidismHP:0000028
  • EpicanthusHP:0000286
  • External genital hypoplasiaHP:0003241
  • HypertelorismHP:0000316
  • Intellectual disabilityHP:0001249
  • MacrocephalyHP:0000256
  • Narrow faceHP:0000275
  • ObesityHP:0001513
  • OxycephalyHP:0000263
  • PlagiocephalyHP:0001357
  • PolydactylyHP:0010442
  • Prominent metopic ridgeHP:0005487
  • Short palmHP:0004279
  • SyndactylyHP:0001159
  • Tall statureHP:0000098

Frequent (79-30%)(12)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Abnormal cornea morphologyHP:0000481
  • Abnormal reproductive system morphologyHP:0012243
  • Broad thumbHP:0011304
  • Cloverleaf skullHP:0002676
  • Depressed nasal ridgeHP:0000457
  • Genu valgumHP:0002857
  • Postaxial hand polydactylyHP:0001162
  • Preaxial foot polydactylyHP:0001841
  • StrabismusHP:0000486
  • TurricephalyHP:0000262
  • Wide noseHP:0000445

Occasional (29-5%)(7)

  • Camptodactyly of fingerHP:0100490
  • KyphoscoliosisHP:0002751
  • Patent ductus arteriosusHP:0001643
  • PolyspleniaHP:0001748
  • Short 4th metacarpalHP:0010044
  • Talipes equinovarusHP:0001762
  • Umbilical herniaHP:0001537