Hallermann-Streiff syndrome
ORPHA:2108Malformation syndromeNot applicable, UnknownAntenatal, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)50
Очень частый (80–99%)14
HP:0000164Abnormality of the dentition
HP:0000248Brachycephaly
HP:0000444Convex nasal ridge
HP:0000519Developmental cataract
HP:0000568Microphthalmia
HP:0000773Short ribs
HP:0000896Rib exostoses
HP:0001596Alopecia
HP:0002007Frontal bossing
HP:0002231Sparse body hair
HP:0003508Proportionate short stature
HP:0004334Dermal atrophy
HP:0004349Reduced bone mineral density
HP:0008070Sparse hair
Частый (30–79%)16
HP:0000157Abnormality of the tongue
HP:0000160Narrow mouth
HP:0000162Glossoptosis
HP:0000235Abnormality of the fontanelles or cranial sutures
HP:0000272Malar flattening
HP:0000347Micrognathia
HP:0000430Underdeveloped nasal alae
HP:0000505Visual impairment
HP:0000506Telecanthus
HP:0000653Sparse eyelashes
HP:0000695Natal tooth
HP:0002705High, narrow palate
HP:0002757Recurrent fractures
HP:0010719Abnormality of hair texture
HP:0011069Supernumerary tooth
HP:0045075Sparse eyebrow
Периодический (5–29%)20
HP:0000028Cryptorchidism
HP:0000252Microcephaly
HP:0000453Choanal atresia
HP:0000486Strabismus
HP:0000501Glaucoma
HP:0000545Myopia
HP:0000554Uveitis
HP:0000639Nystagmus
HP:0000821Hypothyroidism
HP:0000929Abnormal skull morphology
HP:0001249Intellectual disability
HP:0001321Cerebellar hypoplasia
HP:0001635Congestive heart failure
HP:0001773Short foot
HP:0002093Respiratory insufficiency
HP:0002779Tracheomalacia
HP:0003363Abdominal situs inversus
HP:0004209Clinodactyly of the 5th finger
HP:0030680Abnormal cardiovascular system morphology
HP:0200055Small hand
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 150 | Worldwide | Case(s) |
| Point prevalence | Unknown | — | Worldwide | Class only |
| Prevalence at birth | 1-9 / 100 000 | 3.6 | Japan | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)