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Neurologic Waardenburg-Shah syndrome
1 OMIM reference -
1 associated gene
36 connected diseases
31 signs/symptoms
Disease Type of connection
Kallmann syndrome
Waardenburg syndrome type 2
Waardenburg-Shah syndrome
Alveolar rhabdomyosarcoma
Craniofacial-deafness-hand syndrome
Waardenburg syndrome type 1
Waardenburg syndrome type 3
Autosomal recessive primary microcephaly
Split hand - split foot - deafness
Agnathia - holoprosencephaly - situs inversus
Aniridia - cerebellar ataxia - intellectual deficit
Autosomal dominant keratitis
Autosomal dominant secondary polycythemia
Foveal hypoplasia - presenile cataract
Frontonasal dysplasia with alopecia and genital anomaly
Isolated Klippel-Feil syndrome
Isolated aniridia
Isolated optic nerve hypoplasia
Isolated scaphocephaly
Morning glory syndrome
Multiple paragangliomas associated with polycythemia
Parietal foramina
Peters anomaly
Potocki-Shaffer syndrome
Sporadic pheochromocytoma
Sporadic secreting paraganglioma
WAGR syndrome
Acute myeloid leukemia with CEBPA somatic mutations
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Charcot-Marie-Tooth disease type 1D
Charcot-Marie-Tooth disease type 4E
Dejerine-Sottas syndrome
Extraskeletal myxoid chondrosarcoma
Inherited acute myeloid leukemia
Isolated brachycephaly
Isolated plagiocephaly
Synonym(s):
- PCWH
- Peripheral demyelinating neuropathy - central dysmyelinating leukodystrophy - Waardenburg syndrome - Hirschsprung disease
- WS4 plus
Classification (Orphanet):
- Rare abdominal surgical disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare gastroenterologic disease
- Rare genetic disease
- Rare neurologic disease
- Rare otorhinolaryngologic disease
- Rare skin disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
SOX10 P56693602229
Very frequent
- Acute abdominal pain / colic
- Ataxia / incoordination / trouble of the equilibrium
- Constipation
- Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease
- Heterochromia / mixed colouring of iris
- Hypertonia / spasticity / rigidity / stiffness
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Intestinal obstruction / ileus
- Irregular / patchy skin hypopigmentation
- Nystagmus
- Peripheral neuropathy
- Pyramidal syndrome
- Seizures / epilepsy / absences / spasms / status epilepticus
- Sensorineural deafness / hearing loss

Frequent
- Anomalies of eyelids, eyelashes and lacrimal system
- Broad nose / nasal bridge
- Colonic atresia / stenosis / absence / agenesis / hypoplasia / microcolon
- Decreased hair pigmentation / hypopigmentation of hair
- Eyebrows anomalies
- High nasal bridge
- Late puberty / hypogonadism / hypogenitalism
- Premature greying of hair
- Thin / hypoplastic ala nasi

Occasional
- Arthrogryposis
- Cardiac rhythm disorder / arrhythmia
- Hepatomegaly / liver enlargement (excluding storage disease)
- Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance
- Salivary gland neoplasm / tumor / carcinoma / cancer
- Splenomegaly
- Telecanthus / canthal dystopy