Trichorhinophalangeal syndrome type 1
ORPHA:77258Malformation syndromeAutosomal dominantInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)29
Очень частый (80–99%)18
HP:0000325Triangular face
HP:0000343Long philtrum
HP:0000347Micrognathia
HP:0000400Macrotia
HP:0000411Protruding ear
HP:0000414Bulbous nose
HP:0000653Sparse eyelashes
HP:0002007Frontal bossing
HP:0004209Clinodactyly of the 5th finger
HP:0004322Short stature
HP:0008070Sparse hair
HP:0009882Short distal phalanx of finger
HP:0010049Short metacarpal
HP:0010579Cone-shaped epiphysis
HP:0010743Short metatarsal
HP:0011341Long upper lip
HP:0011910Shortening of all phalanges of fingers
HP:0045075Sparse eyebrow
Частый (30–79%)11
HP:0000164Abnormality of the dentition
HP:0000218High palate
HP:0000768Pectus carinatum
HP:0001252Hypotonia
HP:0001808Fragile nails
HP:0001820Leukonychia
HP:0002650Scoliosis
HP:0003307Hyperlordosis
HP:0005743Avascular necrosis of the capital femoral epiphysis
HP:0011069Supernumerary tooth
HP:0100490Camptodactyly of finger
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 250 | 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)