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Nager syndrome
1 OMIM reference -
1 associated gene
21 connected diseases
30 signs/symptoms
Disease Type of connection
Precursor T-cell acute lymphoblastic leukemia
Generalized juvenile polyposis / juvenile polyposis coli
Hereditary mixed polyposis syndrome
Hereditary nonpolyposis colon cancer
Juvenile polyposis of infancy
Mandibulofacial dysostosis-microcephaly syndrome
Retinitis pigmentosa
TARP syndrome
17q11 microdeletion syndrome
Chronic myeloid leukemia
Desmoplastic small round cell tumor
Ewing sarcoma
Extraskeletal Ewing sarcoma
Extraskeletal myxoid chondrosarcoma
Familial isolated dilated cardiomyopathy
Melanoma of soft part
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Muscular dystrophy, Selcen type
Precursor B-cell acute lymphoblastic leukemia
Pseudohypoaldosteronism type 2E
Williams syndrome
Synonym(s):
- Mandibulofacial dysostosis with preaxial limb anomalies
- NAFD
- Nager acrofacial dysostosis
- Preaxial acrodysostosis
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare otorhinolaryngologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
1 MeSH reference: C538184
Gene symbol UniProt reference OMIM reference
SF3B4 Q15427605593
Very frequent
- Autosomal dominant inheritance
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Flat cheek bones / malar hypoplasia
- Hearing loss / hypoacusia / deafness
- Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia
- Micrognathia / retrognathia / micrognathism / retrognathism
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Thumb hypoplasia / aplasia / absence

Frequent
- Absent / decreased / thin eyebrows
- Anomalies of eyelids, eyelashes and lacrimal system
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Coloboma of the eyelid
- External auditory canal atresia / stenosis / agenesis
- Long / large / bulbous nose
- Macrostomia / big mouth
- Microtia / cryptomicrotia / anotia / external auditory canal / pinnae aplasia / hypoplasia
- Palate anomalies
- Ptosis
- Radioulnar synostosis
- Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Restricted joint mobility / joint stiffness / ankylosis

Occasional
- Agenesis / hypoplasia / aplasia of kidneys
- Congenital cardiac anomaly / malformation / cardiopathy
- Fingerlike / triphalangeal thumb
- Lateral cleft lip / gingival cleft / paramedian nasal cleft
- Low set ears / posteriorly rotated ears
- Lower limb segmental anomalies
- Phocomelia