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Microcephalic osteodysplastic primordial dwarfism type II
ORPHA:2637 · Malformation syndrome · Disorder
HPO 表現型（共 52 項）
Very frequent (99-80%)(18)
- Abnormal epiphysis morphologyHP:0005930
- Abnormal metaphysis morphologyHP:0000944
- Abnormally high-pitched voiceHP:0001620
- Aplasia/Hypoplasia of the earlobesHP:0009906
- BrachydactylyHP:0001156
- Clinodactyly of the 5th fingerHP:0004209
- Coxa varaHP:0002812
- Delayed skeletal maturationHP:0002750
- Disproportionate short statureHP:0003498
- Fine hairHP:0002213
- Hypernasal speechHP:0001611
- Hypoplastic iliac wingHP:0002866
- Intrauterine growth retardationHP:0001511
- MicrocephalyHP:0000252
- MicromeliaHP:0002983
- Narrow pelvis boneHP:0003275
- Prominent noseHP:0000448
- Tooth agenesisHP:0009804
Frequent (79-30%)(15)
- Abnormal female external genitalia morphologyHP:0000055
- Aplasia/Hypoplasia of the eyebrowHP:0100840
- Dry skinHP:0000958
- Full cheeksHP:0000293
- Hypopigmented skin patchesHP:0001053
- Joint hypermobilityHP:0001382
- Low-set earsHP:0000369
- MicrodontiaHP:0000691
- Multiple cafe-au-lait spotsHP:0007565
- RetrognathiaHP:0000278
- ScoliosisHP:0002650
- Sensorineural hearing impairmentHP:0000407
- Truncal obesityHP:0001956
- Underdeveloped nasal alaeHP:0000430
- Wide nasal bridgeHP:0000431
Occasional (29-5%)(19)
- Abnormal cerebral vascular morphologyHP:0100659
- AnemiaHP:0001903
- Arterial stenosisHP:0100545
- Atrial septal defectHP:0001631
- Attention deficit hyperactivity disorderHP:0007018
- Downslanted palpebral fissuresHP:0000494
- Global developmental delayHP:0001263
- Hypoplasia of the corpus callosumHP:0002079
- Intellectual disabilityHP:0001249
- LaryngomalaciaHP:0001601
- Narrow palpebral fissureHP:0045025
- Patent ductus arteriosusHP:0001643
- Precocious pubertyHP:0000826
- Recurrent respiratory infectionsHP:0002205
- SeizureHP:0001250
- StrokeHP:0001297
- Tracheal stenosisHP:0002777
- Vascular dilatationHP:0002617
- VentriculomegalyHP:0002119