Pachygyria - epilepsy - intellectual deficit - dysmorphism

General Information (adopted from Orphanet):

Synonyms, Signs: PACHYGYRIA, MENTAL RETARDATION, EPILEPSY, AND CHARACTERISTIC FACIES
COFL SYNDROME
CEREBROOCULOFACIAL LYMPHATIC SYNDROME
MENTAL RETARDATION WITH EPILEPSY AND CHARACTERISTIC FACIES
Cerebro-oculo-facial-lymphatic syndrome
Fryns-Aftimos syndrome
Number of Symptoms 44
OrphanetNr: 94084
OMIM Id: 606155
ICD-10: Q04.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 10 cases [Orphanet]
Inheritance: X-linked recessive inheritance
Autosomal recessive inheritance
Sporadic
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000028) Cryptorchidism 347 / 7739
2
 (HPO:0008689) Bilateral cryptorchidism 38 / 7739
3
 (HPO:0002553) Highly arched eyebrow 92 / 7739
4
 (HPO:0000232) Everted lower lip vermilion 90 / 7739
5
 (HPO:0000470) Short neck 345 / 7739
6
 (HPO:0000316) Hypertelorism 644 / 7739
7
 (HPO:0000282) Facial edema 5 / 7739
8
 (HPO:0000294) Low anterior hairline 52 / 7739
9
 (HPO:0000154) Wide mouth 137 / 7739
10
 (HPO:0000465) Webbed neck 81 / 7739
11
 (HPO:0000319) Smooth philtrum 72 / 7739
12
 (HPO:0000675) Macrodontia of permanent maxillary central incisor 7 / 7739
13
 (HPO:0000343) Long philtrum 262 / 7739
14
 (HPO:0002162) Low posterior hairline 88 / 7739
15
 (HPO:0000475) Broad neck 12 / 7739
16
 (HPO:0000218) High palate 356 / 7739
17
 (HPO:0000508) Ptosis 459 / 7739
18
 (HPO:0008551) Microtia 98 / 7739
19
 (HPO:0000358) Posteriorly rotated ears 163 / 7739
20
 (HPO:0001263) Global developmental delay 853 / 7739
21
 (HPO:0010864) Intellectual disability, severe 120 / 7739
22
 (HPO:0006887) Intellectual disability, progressive 68 / 7739
23
 (HPO:0001250) Seizures 1245 / 7739
24
 (HPO:0001257) Spasticity 251 / 7739
25
 (HPO:0002557) Hypoplastic nipples 33 / 7739
26
 (HPO:0003186) Inverted nipples 15 / 7739
27
 (HPO:0001169) Broad palm 43 / 7739
28
 (HPO:0000765) Abnormality of the thorax 64 / 7739
29
 (HPO:0001824) Weight loss 42 / 7739
30
 (OMIM) Weight loss in neonatal period 1 / 7739
31
 (HPO:0030051) Tip-toe gait 10 / 7739
32
 (OMIM) Broad root of nose 1 / 7739
33
 (OMIM) Upper part of thorax narrowed 1 / 7739
34
 (HPO:0001302) Pachygyria 60 / 7739
35
 (OMIM) 20-30 degree extension deficit of knees and elbows 1 / 7739
36
 (OMIM) Broad bridge of nose 1 / 7739
37
 (OMIM) Mild spasticity 3 / 7739
38
 (OMIM) Broadly spaced nipples 1 / 7739
39
 (OMIM) Seizures, poorly controlled 1 / 7739
40
 (HPO:0003745) Sporadic 131 / 7739
41
 (OMIM) Pachygyria, most prominent in the frontal lobes 1 / 7739
42
 (OMIM) Prominent upper central incisors 2 / 7739
43
 (OMIM) Fine upper lip 1 / 7739
44
 (OMIM) Narrowing of the frontal part of the skull 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Diagnosis OMIM - Differential Diagnosis

Riviere et al. (2012) noted substantial phenotypic overlap between Baraitser-Winter syndrome and some patients with Fryns-Aftimos syndrome, including trigonocephaly, hypertelorism, congenital ptosis, high-arched eyebrows, broad nose, and low-set posteriorly rotated malformed ears; both ...
Clinical Description OMIM Fryns and Aftimos (2000) presented the clinical histories and physical findings in 2 unrelated, severely retarded males. (The first patient was reclassified as Baraitser-Winter syndrome-1, 243310, by Riviere et al. (2012) on the basis of mutation analysis.) Craniofacial ...