PALANT CLEFT PALATE SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 16
OrphanetNr:
OMIM Id: 260150
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:0000414) Bulbous nose 63 / 7739
2
 (HPO:0000175) Cleft palate 349 / 7739
3
 (HPO:0002263) Exaggerated cupid's bow 15 / 7739
4
 (HPO:0000582) Upslanted palpebral fissure 185 / 7739
5
 (HPO:0006887) Intellectual disability, progressive 68 / 7739
6
 (HPO:0001270) Motor delay 322 / 7739
7
 (HPO:0010864) Intellectual disability, severe 120 / 7739
8
 (HPO:0009276) Contracture of the proximal interphalangeal joint of the 4th finger 1 / 7739
9
 (HPO:0009185) Contracture of the proximal interphalangeal joint of the 5th finger 3 / 7739
10
 (HPO:0004322) Short stature 1232 / 7739
11
 (OMIM) Firm nonbony prominences of wrists 1 / 7739
12
 (OMIM) Severe motor retardation 1 / 7739
13
 (OMIM) Camptodactyly of fingers 4 and 5 1 / 7739
14
 (OMIM) Almond-shaped eyes 12 / 7739
15
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
16
 (OMIM) Mongoloid eye slant 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Palant et al. (1971) described 2 sisters with severe mental and motor retardation, short stature, similar facial appearance (almond-shaped eyes with upward slant, bulbous nasal tip, prominent cupid-bow of upper lip), cleft palate, and similar limb abnormalities (camptodactyly ...