Marfanoid habitus-autosomal recessive intellectual disability syndrome
ORPHA:2463Malformation syndromeAutosomal recessiveChildhood, Infancy
Фенотипы (HPO)43
Очень частый (80–99%)7
HP:0000098Tall stature
HP:0001263Global developmental delay
HP:0001382Joint hypermobility
HP:0001519Disproportionate tall stature
HP:0003100Slender long bone
HP:0003782Eunuchoid habitus
HP:0012771Increased arm span
Частый (30–79%)25
HP:0000160Narrow mouth
HP:0000218High palate
HP:0000268Dolichocephaly
HP:0000272Malar flattening
HP:0000280Coarse facial features
HP:0000316Hypertelorism
HP:0000400Macrotia
HP:0000445Wide nose
HP:0000767Pectus excavatum
HP:0000883Thin ribs
HP:0000938Osteopenia
HP:0001166Arachnodactyly
HP:0001252Hypotonia
HP:0001833Long foot
HP:0003393Thenar muscle atrophy
HP:0006086Thin metacarpal cortices
HP:0008050Abnormality of the palpebral fissures
HP:0008078Thin metatarsal cortices
HP:0009004Hypoplasia of the musculature
HP:0009929Abnormal columella morphology
HP:0010487Small hypothenar eminence
HP:0011822Broad chin
HP:0011849Abnormal bone ossification
HP:0012157Subcortical cerebral atrophy
HP:0012368Flat face
Периодический (5–29%)11
HP:0000289Broad philtrum
HP:0000565Esotropia
HP:0000664Synophrys
HP:0000777Abnormality of the thymus
HP:0001007Hirsutism
HP:0001640Cardiomegaly
HP:0002162Low posterior hairline
HP:0002750Delayed skeletal maturation
HP:0008439Lumbar hemivertebrae
HP:0009002Loss of truncal subcutaneous adipose tissue
HP:0100579Mucosal telangiectasiae
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 4 | 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)