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ORPHA:280Malformation syndrome
Also called 4p- syndrome · Distal deletion 4p · Distal monosomy 4p · Telomeric deletion 4p
What it is
A developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia.
Key facts
- Prevalence
- 1-9 / 100 000 (Europe)
- Age of onset
- Antenatal, Neonatal
- Inheritance
- Multigenic/multifactorial, Not applicable
- Classified as
- Malformation syndrome
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
29- Abnormality of the mouth
- Abnormality of the philtrum
- Abnormal lip morphology
- Ataxia
- Decreased fetal movement
- Dolichocephaly
- Downslanted palpebral fissures
- Downturned corners of mouth
- Epicanthus
- Failure to thrive
- Frontal bossing
- Global developmental delay
- High anterior hairline
- High forehead
- Highly arched eyebrow
- Hypertelorism
- Hypodontia
- Hypospadias
- Hypotonia
- Intellectual disability, severe
- Intrauterine growth retardation
- Low posterior hairline
- Microcephaly
- Micrognathia
- Microtia
- Posteriorly rotated ears
- Seizure
- Short philtrum
- Wide nasal bridge
Common30–79%
42- Abnormal cardiac septum morphology
- Abnormal cardiovascular system morphology
- Abnormal foot morphology
- Abnormal form of the vertebral bodies
- Abnormal heart valve morphology
- Abnormality of the kidney
- Abnormality of the vertebral column
- Abnormal thorax morphology
- Abnormal vertebral morphology
- Aplasia cutis congenita of scalp
- Aplasia/Hypoplasia of the lungs
- Arachnodactyly
- Atrial septal defect
- Cleft upper lip
- Congenital diaphragmatic hernia
- Cryptorchidism
- Decreased circulating IgA level
- Delayed eruption of teeth
- Delayed skeletal maturation
- Dry skin
- Feeding difficulties
- Hearing impairment
- Hemangioma
- Hypoplastic pubic rami
- Iris coloboma
- Kyphosis
- Optic atrophy
- Preauricular pit
- Preaxial hand polydactyly
- Ptosis
- Rib fusion
- Rib segmentation abnormalities
- Sacral dimple
- Scoliosis
- Short hallux
- Short thumb
- Skull defect
- Sleep abnormality
- Split hand
- Talipes equinovarus
- Taurodontia
- Tethered cord
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Genes
ICD-10 codes
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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