Camptodactyly syndrome, Guadalajara type 3
ORPHA:488434Malformation syndromeNeonatal
Фенотипы (HPO)27
Частый (30–79%)26
HP:0000278Retrognathia
HP:0000324Facial asymmetry
HP:0000377Abnormal pinna morphology
HP:0000437Depressed nasal tip
HP:0000455Broad nasal tip
HP:0000465Webbed neck
HP:0000470Short neck
HP:0000506Telecanthus
HP:0000574Thick eyebrow
HP:0000772Abnormal rib morphology
HP:0000929Abnormal skull morphology
HP:0000935Thickened cortex of long bones
HP:0000938Osteopenia
HP:0001054Numerous nevi
HP:0001256Intellectual disability, mild
HP:0001773Short foot
HP:0002750Delayed skeletal maturation
HP:0003298Spina bifida occulta
HP:0006402Distal shortening of limbs
HP:0006429Broad femoral neck
HP:0010761Broad columella
HP:0012036Sternocleidomastoid amyotrophy
HP:0012368Flat face
HP:0012810Wide nasal base
HP:0200055Small hand
HP:0430007Symblepharon
Периодический (5–29%)1
HP:0000054Micropenis
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 5 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)