Cartilage-hair hypoplasia
ORPHA:175DiseaseAutosomal recessiveAntenatal, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)79
Очень частый (80–99%)43
HP:0000444Convex nasal ridge
HP:0000470Short neck
HP:0000486Strabismus
HP:0000505Visual impairment
HP:0000592Blue sclerae
HP:0000940Abnormal diaphysis morphology
HP:0000944Abnormal metaphysis morphology
HP:0001252Hypotonia
HP:0001377Limited elbow extension
HP:0001508Failure to thrive
HP:0001638Cardiomyopathy
HP:0001671Abnormal cardiac septum morphology
HP:0001732Abnormality of the pancreas
HP:0001875Decreased total neutrophil count
HP:0002093Respiratory insufficiency
HP:0002353EEG abnormality
HP:0002650Scoliosis
HP:0002652Skeletal dysplasia
HP:0002777Tracheal stenosis
HP:0002901Hypocalcemia
HP:0002982Tibial bowing
HP:0002983Micromelia
HP:0003027Mesomelia
HP:0003307Hyperlordosis
HP:0003312Abnormal form of the vertebral bodies
HP:0004279Short palm
HP:0004625Biconvex vertebral bodies
HP:0005019Diaphyseal thickening
HP:0005871Metaphyseal chondrodysplasia
HP:0005930Abnormality of epiphysis morphology
HP:0006487Bowing of the long bones
HP:0007703Abnormality of retinal pigmentation
HP:0008070Sparse hair
HP:0008499High hypermetropia
HP:0008873Disproportionate short-limb short stature
HP:0008905Rhizomelia
HP:0009832Abnormal distal phalanx morphology of finger
HP:0010301Spinal dysraphism
HP:0011849Abnormal bone ossification
HP:0045075Sparse eyebrow
HP:0100255Metaphyseal dysplasia
HP:0100569Abnormally ossified vertebrae
HP:0100729Large face
Частый (30–79%)12
HP:0000174Abnormal palate morphology
HP:0000212Gingival overgrowth
HP:0000545Myopia
HP:0000774Narrow chest
HP:0001315Reduced tendon reflexes
HP:0002024Malabsorption
HP:0003272Abnormality of the hip bone
HP:0005280Depressed nasal bridge
HP:0006589Flaring of lower rib cage
HP:0008155Mucopolysacchariduria
HP:0011220Prominent forehead
HP:0000358Posteriorly rotated ears
Периодический (5–29%)24
HP:0000248Brachycephaly
HP:0000286Epicanthus
HP:0000400Macrotia
HP:0000431Wide nasal bridge
HP:0000457Depressed nasal ridge
HP:0000463Anteverted nares
HP:0000768Pectus carinatum
HP:0000772Abnormal rib morphology
HP:0000960Sacral dimple
HP:0001903Anemia
HP:0002240Hepatomegaly
HP:0002251Aganglionic megacolon
HP:0002644Abnormality of pelvic girdle bone morphology
HP:0002750Delayed skeletal maturation
HP:0003220Abnormality of chromosome stability
HP:0004313Decreased circulating antibody level
HP:0005616Accelerated skeletal maturation
HP:0008056Aplasia/Hypoplasia affecting the eye
HP:0010306Short thorax
HP:0010318Aplasia/Hypoplasia of the abdominal wall musculature
HP:0012722Heart block
HP:0100543Cognitive impairment
HP:0200055Small hand
HP:0001382Joint hypermobility
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | >1 / 1000 | 150 | Specific population | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 4.34 | Finland | Value and class |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)