LAMBOTTE SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs: MICROCEPHALY, HOLOPROSENCEPHALY, AND INTRAUTERINE GROWTH RETARDATION
Number of Symptoms 19
OrphanetNr:
OMIM Id: 245552
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000316) Hypertelorism 644 / 7739
2
 (HPO:0000506) Telecanthus 156 / 7739
3
 (HPO:0000160) Narrow mouth 188 / 7739
4
 (HPO:0000278) Retrognathia 100 / 7739
5
 (HPO:0000444) Convex nasal ridge 87 / 7739
6
 (HPO:0000252) Microcephaly 832 / 7739
7
 (HPO:0007700) Anterior segment dysgenesis 9 / 7739
8
 (HPO:0000486) Strabismus 576 / 7739
9
 (HPO:0000400) Macrotia 108 / 7739
10
 (HPO:0000413) Atresia of the external auditory canal 32 / 7739
11
 (HPO:0001841) Preaxial foot polydactyly 24 / 7739
12
 (HPO:0001511) Intrauterine growth retardation 358 / 7739
13
 (HPO:0001629) Ventricular septal defect 316 / 7739
14
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
15
 (HPO:0002507) Semilobar holoprosencephaly 6 / 7739
16
 (OMIM) Interventricular septal defect 1 / 7739
17
 (OMIM) Cerebral malformation 3 / 7739
18
 (OMIM) Large soft pinnae 1 / 7739
19
 (OMIM) Severe neurologic impairment 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Verloes et al. (1990) described an Arabic sibship originating from Morocco in which 4 children had a syndrome of intrauterine growth retardation, microcephaly, large soft pinnae, telecanthus or true hypertelorism with squint, unusual hooked nose, narrow mouth, retrognathia, ...