Temtamy preaxial brachydactyly syndrome
ORPHA:363417Malformation syndromeAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)48
Очень частый (80–99%)2
HP:0009942Duplication of thumb phalanx
HP:0011297Abnormal digit morphology
Частый (30–79%)17
HP:0000164Abnormality of the dentition
HP:0000668Hypodontia
HP:0001090Abnormally large globe
HP:0001156Brachydactyly
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0001510Growth delay
HP:0001566Widely-spaced maxillary central incisors
HP:0001999Abnormal facial shape
HP:0006152Proximal symphalangism of hands
HP:0008625Severe sensorineural hearing impairment
HP:0009608Complete duplication of proximal phalanx of the thumb
HP:0009944Partial duplication of thumb phalanx
HP:0009966Complete duplication of the middle phalanx of the 3rd finger
HP:0009970Partial duplication of the proximal phalanx of the 3rd finger
HP:0011087Talon cusp
HP:0100266Synostosis of carpals/tarsals
Периодический (5–29%)29
HP:0000160Narrow mouth
HP:0000311Round face
HP:0000327Hypoplasia of the maxilla
HP:0000347Micrognathia
HP:0000369Low-set ears
HP:0000517Abnormality of the lens
HP:0000592Blue sclerae
HP:0000648Optic atrophy
HP:0000677Oligodontia
HP:0000691Microdontia
HP:0000692Tooth malposition
HP:0001328Specific learning disability
HP:0001773Short foot
HP:0002465Poor speech
HP:0003196Short nose
HP:0004209Clinodactyly of the 5th finger
HP:0004279Short palm
HP:0004322Short stature
HP:0005037Proximal radio-ulnar synostosis
HP:0008368Tarsal synostosis
HP:0009466Radial deviation of finger
HP:0010109Short hallux
HP:0010554Cutaneous finger syndactyly
HP:0011078Abnormality of canine
HP:0012795Abnormality of the optic disc
HP:0040022Clinodactyly of the 2nd finger
HP:0040159Abnormal spaced incisors
HP:0100345Tibial deviation of the 2nd toe
HP:0100347Tibial deviation of the 5th toe
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 18 | 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)