CLAPO syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: LOPEZ-GUTIERREZ SYNDROME
CLAPO
Number of Symptoms 10
OrphanetNr: 168984
OMIM Id: 613089
ICD-10: Q87.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 6 cases [Orphanet]
Inheritance: Unknown
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Capillary malformation
 -Rare circulatory system disease
 -Rare developmental defect during embryogenesis
Lymphatic malformation
 -Rare circulatory system disease
 -Rare developmental defect during embryogenesis
 -Rare oncologic disease
 -Rare skin disease
Overgrowth syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0011331) Hemifacial atrophy Frequent [Orphanet] 79 / 7739
2
 (HPO:0000767) Pectus excavatum Occasional [Orphanet] 244 / 7739
3
 (HPO:0002817) Abnormality of the upper limb Frequent [Orphanet] 25 / 7739
4
 (HPO:0000774) Narrow chest Occasional [Orphanet] 167 / 7739
5
 (HPO:0100559) Lower limb asymmetry Frequent [Orphanet] 30 / 7739
6
 (HPO:0100555) Asymmetric growth Very frequent [Orphanet] 25 / 7739
7
 (HPO:0000098) Tall stature Occasional [Orphanet] 74 / 7739
8
 (HPO:0001052) Nevus flammeus Very frequent [Orphanet] 88 / 7739
9
 (HPO:0100026) Arteriovenous malformation Frequent [Orphanet] 38 / 7739
10
 (HPO:0100764) Lymphangioma Very frequent [Orphanet] 11 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Lopez-Gutierrez and Lapunzina (2008) described 6 unrelated patients with an apparently distinct syndrome of capillary malformation of the lower lip, lymphatic malformation of the face and neck, asymmetry of the face and limbs, and partial/generalized overgrowth. No internal ...