Camptodactyly syndrome, Guadalajara type 1
ORPHA:1327Malformation syndromeAutosomal recessiveNeonatal
Фенотипы (HPO)47
Очень частый (80–99%)12
HP:0000506Telecanthus
HP:0000689Dental malocclusion
HP:0000767Pectus excavatum
HP:0000768Pectus carinatum
HP:0003312Abnormal form of the vertebral bodies
HP:0006292Abnormality of dental eruption
HP:0008551Microtia
HP:0009907Attached earlobe
HP:0010807Open bite
HP:0011800Midface retrusion
HP:0012368Flat face
HP:0100490Camptodactyly of finger
Частый (30–79%)28
HP:0001511Intrauterine growth retardation
HP:0001770Toe syndactyly
HP:0001822Hallux valgus
HP:0001831Short toe
HP:0002414Spina bifida
HP:0002714Downturned corners of mouth
HP:0002750Delayed skeletal maturation
HP:0002967Cubitus valgus
HP:0003196Short nose
HP:0003691Scapular winging
HP:0004322Short stature
HP:0005280Depressed nasal bridge
HP:0009891Underdeveloped supraorbital ridges
HP:0000160Narrow mouth
HP:0000218High palate
HP:0000248Brachycephaly
HP:0000252Microcephaly
HP:0000275Narrow face
HP:0000286Epicanthus
HP:0000303Mandibular prognathia
HP:0000463Anteverted nares
HP:0000482Microcornea
HP:0000774Narrow chest
HP:0000995Melanocytic nevus
HP:0001156Brachydactyly
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001263Global developmental delay
Периодический (5–29%)7
HP:0000276Long face
HP:0000581Blepharophimosis
HP:0000664Synophrys
HP:0000960Sacral dimple
HP:0002553Highly arched eyebrow
HP:0009882Short distal phalanx of finger
HP:0000358Posteriorly rotated ears
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 8 | 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)