Atkin-Flaitz syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: ATKIN SYNDROME
X-linked intellectual deficit, Atkin type
Number of Symptoms 41
OrphanetNr: 1193
OMIM Id: 300431
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 14 cases [Orphanet]
Inheritance: X-linked dominant
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
X-linked syndromic intellectual deficit
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
2
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
3
 (HPO:0000098) Tall stature 74 / 7739
4
 (HPO:0001513) Obesity Very frequent [Orphanet] 172 / 7739
5
 (HPO:0001249) Intellectual disability 1089 / 7739
6
 (HPO:0001256) Intellectual disability, mild 141 / 7739
7
 (HPO:0001250) Seizures 1245 / 7739
8
 (HPO:0002857) Genu valgum 144 / 7739
9
 (HPO:0001182) Tapered finger 93 / 7739
10
 (HPO:0002816) Genu recurvatum 30 / 7739
11
 (HPO:0001169) Broad palm 43 / 7739
12
 (HPO:0004279) Short palm 323 / 7739
13
 (HPO:0000337) Broad forehead Very frequent [Orphanet] 116 / 7739
14
 (HPO:0002007) Frontal bossing 366 / 7739
15
 (HPO:0000256) Macrocephaly Very frequent [Orphanet] 298 / 7739
16
 (HPO:0011220) Prominent forehead 137 / 7739
17
 (HPO:0002808) Kyphosis 289 / 7739
18
 (HPO:0002650) Scoliosis 705 / 7739
19
 (HPO:0001388) Joint laxity 117 / 7739
20
 (HPO:0000053) Macroorchidism Very frequent [Orphanet] 18 / 7739
21
 (HPO:0000280) Coarse facial features Very frequent [Orphanet] 189 / 7739
22
 (HPO:0000494) Downslanted palpebral fissures 328 / 7739
23
 (HPO:0000336) Prominent supraorbital ridges Very frequent [Orphanet] 45 / 7739
24
 (HPO:0002054) Heavy supraorbital ridges 2 / 7739
25
 (HPO:0000159) Abnormality of the lip Very frequent [Orphanet] 33 / 7739
26
 (HPO:0000179) Thick lower lip vermilion 72 / 7739
27
 (HPO:0012471) Thick vermilion border Very frequent [Orphanet] 115 / 7739
28
 (HPO:0002708) Prominent median palatal raphe 4 / 7739
29
 (HPO:0000164) Abnormality of the teeth Very frequent [Orphanet] 291 / 7739
30
 (HPO:0001593) Maxillary lateral incisor microdontia 2 / 7739
31
 (HPO:0001566) Widely-spaced maxillary central incisors 15 / 7739
32
 (HPO:0000691) Microdontia 104 / 7739
33
 (HPO:0002711) Exaggerated median tongue furrow 2 / 7739
34
 (HPO:0005105) Abnormal nasal morphology Very frequent [Orphanet] 114 / 7739
35
 (HPO:0000463) Anteverted nares Very frequent [Orphanet] 305 / 7739
36
 (HPO:0000455) Broad nasal tip 67 / 7739
37
 (HPO:0400004) Long ear Frequent [Orphanet] 94 / 7739
38
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
39
 (HPO:0001423) X-linked dominant inheritance 69 / 7739
40
 (OMIM) Broad, short hands 14 / 7739
41
 (OMIM) Mental retardation, moderate to severe 20 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Atkin et al. (1985) reported a 3-generation family with 11 moderately to severely retarded males and 3 mildly retarded females. Phenotypic manifestations included short stature, macrocephaly, 'coarse' facial features with prominent forehead and supraorbital ridges, hypertelorism, broad nasal ...