Preaxial polydactyly - colobomata - intellectual deficit

General Information (adopted from Orphanet):

Synonyms, Signs: Pfeiffer-Mayer syndrome
Number of Symptoms 8
OrphanetNr: 2921
OMIM Id:
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0005105) Abnormal nasal morphology Very frequent [Orphanet] 114 / 7739
2
(HPO:0000612) Iris coloboma Frequent [Orphanet] 116 / 7739
3
(HPO:0000479) Abnormality of the retina Frequent [Orphanet] 74 / 7739
4
(HPO:0000411) Protruding ear Very frequent [Orphanet] 140 / 7739
5
(HPO:0001177) Preaxial hand polydactyly Very frequent [Orphanet] 59 / 7739
6
(HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
7
(HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
8
(HPO:0012795) Abnormality of the optic disc Very frequent [Orphanet] 187 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: