Acromegaloid facial appearance syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: AFA SYNDROME
THICK LIPS AND ORAL MUCOSA
Number of Symptoms 37
OrphanetNr: 965
OMIM Id: 102150
ICD-10: Q87.0
UMLs: C0796280
MeSH: C535655
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 20 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0012471) Thick vermilion border Very frequent [Orphanet] 115 / 7739
2
 (HPO:0000159) Abnormality of the lip Very frequent [Orphanet] 33 / 7739
3
 (HPO:0000574) Thick eyebrow Frequent [Orphanet] 96 / 7739
4
 (HPO:0002553) Highly arched eyebrow Frequent [Orphanet] 92 / 7739
5
 (HPO:0000168) Abnormality of the gingiva Very frequent [Orphanet] 51 / 7739
6
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
7
 (HPO:0004437) Cranial hyperostosis Frequent [Orphanet] 55 / 7739
8
 (HPO:0000664) Synophrys Frequent [Orphanet] 112 / 7739
9
 (HPO:0100540) Palpebral edema Very frequent [Orphanet] 31 / 7739
10
 (HPO:0100649) Neoplasm of the oral cavity Very frequent [Orphanet] 20 / 7739
11
 (HPO:0009928) Thick nasal alae Very frequent [Orphanet] 21 / 7739
12
 (HPO:0000153) Abnormality of the mouth 60 / 7739
13
 (HPO:0000340) Sloping forehead Frequent [Orphanet] 86 / 7739
14
 (HPO:0000581) Blepharophimosis Very frequent [Orphanet] 197 / 7739
15
 (HPO:0000414) Bulbous nose 63 / 7739
16
 (HPO:0005105) Abnormal nasal morphology Very frequent [Orphanet] 114 / 7739
17
 (HPO:0000280) Coarse facial features Very frequent [Orphanet] 189 / 7739
18
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
19
 (HPO:0000158) Macroglossia Very frequent [Orphanet] 119 / 7739
20
 (HPO:0001328) Specific learning disability Occasional [HPO:probinson] 114 / 7739
21
 (HPO:0001256) Intellectual disability, mild Occasional [HPO:probinson] 141 / 7739
22
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
23
 (HPO:0001176) Large hands Very frequent [Orphanet] 43 / 7739
24
 (HPO:0001382) Joint hypermobility Very frequent [Orphanet] 231 / 7739
25
 (HPO:0001163) Abnormality of the metacarpal bones Frequent [Orphanet] 149 / 7739
26
 (HPO:0001182) Tapered finger Occasional [Orphanet] Occasional [HPO:probinson] 93 / 7739
27
 (HPO:0001520) Large for gestational age 34 / 7739
28
 (HPO:0001072) Thickened skin Frequent [Orphanet] 87 / 7739
29
 (OMIM) Doughy skin 2 / 7739
30
 (OMIM) Thickened lips, progressive 1 / 7739
31
 (OMIM) Large doughy hands 1 / 7739
32
 (OMIM) Thickened upper eyelids 1 / 7739
33
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
34
 (OMIM) Intraoral mucosal overgrowth 1 / 7739
35
 (OMIM) Increased birth weight 6 / 7739
36
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
37
 (OMIM) Exaggerated oral rugae and frenula 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM In many members of a kindred through at least 5 generations, Hughes et al. (1985) described a syndrome of acromegaloid facial features: thickened lips (without a true 'double lip'), overgrowth of the intraoral mucosa resulting in exaggerated rugae ...