Contractures - ectodermal dysplasia - cleft lip/palate

General Information (adopted from Orphanet):

Synonyms, Signs: Ladda-Zonana-Ramer syndrome
Number of Symptoms 14
OrphanetNr: 1484
OMIM Id: 301815
ICD-10: Q87.8
UMLs: C1844935
C2931745
MeSH: C535465
C538135
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 cases [Orphanet]
Inheritance: Autosomal recessive
X-linked recessive
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Ectodermal dysplasia syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare skin disease
Orofacial clefting syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare maxillo-facial surgical disease
 -Rare otorhinolaryngologic 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:0000632) Lacrimation abnormality Very frequent [Orphanet] 42 / 7739
2
 (HPO:0001263) Global developmental delay 853 / 7739
3
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
4
 (HPO:0004370) Abnormality of temperature regulation Very frequent [Orphanet] 58 / 7739
5
 (HPO:0000174) Abnormality of the palate Very frequent [Orphanet] 298 / 7739
6
 (HPO:0000204) Cleft upper lip Very frequent [Orphanet] 193 / 7739
7
 (HPO:0000202) Oral cleft 120 / 7739
8
 (HPO:0000968) Ectodermal dysplasia 46 / 7739
9
 (HPO:0002803) Congenital contracture Very frequent [Orphanet] 45 / 7739
10
 (HPO:0001510) Growth delay 295 / 7739
11
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
12
 (HPO:0001417) X-linked inheritance 173 / 7739
13
 (OMIM) Normal chromosomes 5 / 7739
14
 (OMIM) Severe congenital contractures 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: