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Wolf-Hirschhorn syndrome

ORPHA:280Malformation syndromeMultigenic/multifactorial, Not applicableAntenatal, Neonatal

Ассоциированные гены (6)

PIGG
phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)
Role in the phenotype of
OMIM: 616918
CPLX1
complexin 1
Role in the phenotype of
OMIM: 605032
CTBP1
C-terminal binding protein 1
Role in the phenotype of
OMIM: 602618
NSD2
nuclear receptor binding SET domain protein 2
Role in the phenotype of
OMIM: 602952
NELFA
negative elongation factor complex member A
Candidate gene tested in
OMIM: 606026
LETM1
leucine zipper and EF-hand containing transmembrane protein 1
Role in the phenotype of
OMIM: 604407

Фенотипы (95)

Очень частый (80–99%) — 29
HP:0000494Downslanted palpebral fissures
HP:0000668Hypodontia
HP:0001250Seizure
HP:0001251Ataxia
HP:0001252Hypotonia
HP:0001263Global developmental delay
HP:0001508Failure to thrive
HP:0001511Intrauterine growth retardation
HP:0001558Decreased fetal movement
HP:0002007Frontal bossing
HP:0002162Low posterior hairline
HP:0002553Highly arched eyebrow
HP:0002714Downturned corners of mouth
HP:0008551Microtia
HP:0009890High anterior hairline
HP:0010864Intellectual disability, severe
HP:0000047Hypospadias
HP:0000153Abnormality of the mouth
HP:0000159Abnormal lip morphology
HP:0000252Microcephaly
HP:0000268Dolichocephaly
HP:0000286Epicanthus
HP:0000288Abnormality of the philtrum
HP:0000316Hypertelorism
HP:0000322Short philtrum
HP:0000347Micrognathia
HP:0000348High forehead
HP:0000358Posteriorly rotated ears
HP:0000431Wide nasal bridge
Частый (30–79%) — 42
HP:0000028Cryptorchidism
HP:0000077Abnormality of the kidney
HP:0000204Cleft upper lip
HP:0000365Hearing impairment
HP:0000508Ptosis
HP:0000612Iris coloboma
HP:0000648Optic atrophy
HP:0000679Taurodontia
HP:0000684Delayed eruption of teeth
HP:0000765Abnormal thorax morphology
HP:0000776Congenital diaphragmatic hernia
HP:0000902Rib fusion
HP:0000925Abnormality of the vertebral column
HP:0000958Dry skin
HP:0000960Sacral dimple
HP:0001028Hemangioma
HP:0001166Arachnodactyly
HP:0001171Split hand
HP:0001177Preaxial hand polydactyly
HP:0001362Skull defect
HP:0001631Atrial septal defect
HP:0001654Abnormal heart valve morphology
HP:0001671Abnormal cardiac septum morphology
HP:0001760Abnormal foot morphology
HP:0001762Talipes equinovarus
HP:0002144Tethered cord
HP:0002360Sleep abnormality
HP:0002650Scoliosis
HP:0002720Decreased circulating IgA level
HP:0002750Delayed skeletal maturation
HP:0002808Kyphosis
HP:0003312Abnormal form of the vertebral bodies
HP:0003468Abnormal vertebral morphology
HP:0004467Preauricular pit
HP:0006655Rib segmentation abnormalities
HP:0006703Aplasia/Hypoplasia of the lungs
HP:0007385Aplasia cutis congenita of scalp
HP:0008830Hypoplastic pubic rami
HP:0009778Short thumb
HP:0010109Short hallux
HP:0011968Feeding difficulties
HP:0030680Abnormal cardiovascular system morphology
Периодический (5–29%) — 24
HP:0000078Abnormality of the genital system
HP:0000079Abnormality of the urinary system
HP:0000151Aplasia of the uterus
HP:0000175Cleft palate
HP:0000389Chronic otitis media
HP:0000485Megalocornea
HP:0000486Strabismus
HP:0000488Retinopathy
HP:0000501Glaucoma
HP:0000520Proptosis
HP:0000639Nystagmus
HP:0000647Sclerocornea
HP:0000939Osteoporosis
HP:0001274Agenesis of corpus callosum
HP:0001519Disproportionate tall stature
HP:0002205Recurrent respiratory infections
HP:0002715Abnormality of the immune system
HP:0003363Abdominal situs inversus
HP:0005264Abnormality of the gallbladder
HP:0006709Aplasia/Hypoplasia of the nipples
HP:0007360Aplasia/Hypoplasia of the cerebellum
HP:0010464Streak ovary
HP:0100022Abnormality of movement
HP:0100790Hernia

Эпидемиология (2)

Prevalence at birth
1-9 / 100 000
Europe
Point prevalence
1-9 / 100 000
Europe

Лекарства и терапия

Источник: Open Targets Platform (в реальном времени)

Клинические исследования

Источник: ClinicalTrials.gov (в реальном времени)

Внешние ресурсы

OrphanetOMIMOpen TargetsClinicalTrials