Pyknoachondrogenesis
ORPHA:3003Malformation syndromeAutosomal recessiveAntenatal, Neonatal
Фенотипы (HPO)23
Частый (30–79%)23
HP:0000369Low-set ears
HP:0000457Depressed nasal ridge
HP:0000465Webbed neck
HP:0000773Short ribs
HP:0000888Horizontal ribs
HP:0002694Sclerosis of skull base
HP:0002983Micromelia
HP:0003026Short long bone
HP:0003175Hypoplastic ischia
HP:0003270Abdominal distention
HP:0004493Craniofacial hyperostosis
HP:0008817Aplastic pubic bones
HP:0010306Short thorax
HP:0011338Abnormality of mouth shape
HP:0011867Abnormality of the wing of the ilium
HP:0012790Abnormal intramembranous ossification
HP:0030290Unossified sacrum
HP:0040194Increased head circumference
HP:0100540Palpebral edema
HP:0100625Enlarged thorax
HP:0100748Muscular edema
HP:0100856Poorly ossified vertebrae
HP:0100866Short iliac bones
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)