Intellectual deficit, X-linked, Armfield type

General Information (adopted from Orphanet):

Synonyms, Signs: MENTAL RETARDATION, X-LINKED, SYNDROMIC, ARMFIELD TYPE
MRXSA
Armfield syndrome
Number of Symptoms 43
OrphanetNr: 85276
OMIM Id: 300261
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 6 cases [Orphanet]
Inheritance: X-linked recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[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:0000035) Abnormality of the testis Occasional [Orphanet] 296 / 7739
2
 (HPO:0000174) Abnormality of the palate Frequent [Orphanet] 298 / 7739
3
 (HPO:0000337) Broad forehead Very frequent [Orphanet] 116 / 7739
4
 (HPO:0011220) Prominent forehead 137 / 7739
5
 (HPO:0000154) Wide mouth Occasional [Orphanet] 137 / 7739
6
 (HPO:0000286) Epicanthus Very frequent [Orphanet] 371 / 7739
7
 (HPO:0000303) Mandibular prognathia Occasional [Orphanet] 179 / 7739
8
 (HPO:0000272) Malar flattening Frequent [Orphanet] rare [HPO:skoehler] 277 / 7739
9
 (HPO:0002714) Downturned corners of mouth Occasional [Orphanet] 98 / 7739
10
 (HPO:0000322) Short philtrum Frequent [Orphanet] 130 / 7739
11
 (HPO:0000248) Brachycephaly Occasional [Orphanet] 222 / 7739
12
 (HPO:0011800) Midface retrusion Frequent [Orphanet] rare [HPO:skoehler] 221 / 7739
13
 (HPO:0000175) Cleft palate rare [HPO:skoehler] 349 / 7739
14
 (HPO:0005280) Depressed nasal bridge Occasional [Orphanet] 381 / 7739
15
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
16
 (HPO:0000256) Macrocephaly Occasional [Orphanet] 298 / 7739
17
 (HPO:0000494) Downslanted palpebral fissures Very frequent [Orphanet] 328 / 7739
18
 (HPO:0000518) Cataract Frequent [Orphanet] rare [HPO:skoehler] 454 / 7739
19
 (HPO:0000486) Strabismus Occasional [Orphanet] rare [HPO:skoehler] 576 / 7739
20
 (HPO:0007906) Increased intraocular pressure 30 / 7739
21
 (HPO:0000501) Glaucoma Frequent [Orphanet] rare [HPO:skoehler] 180 / 7739
22
 (HPO:0010697) Anterior pyramidal cataract 22 / 7739
23
 (HPO:0000357) Abnormal location of ears Occasional [Orphanet] 328 / 7739
24
 (HPO:0001249) Intellectual disability 1089 / 7739
25
 (HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
26
 (HPO:0011302) Long palm Occasional [Orphanet] 70 / 7739
27
 (HPO:0009811) Abnormality of the elbow Occasional [Orphanet] 30 / 7739
28
 (HPO:0001773) Short foot 86 / 7739
29
 (HPO:0200055) Small hand Very frequent [Orphanet] 71 / 7739
30
 (HPO:0005922) Abnormal hand morphology 6 / 7739
31
 (HPO:0009775) Amniotic constriction ring Occasional [Orphanet] 21 / 7739
32
 (HPO:0004299) Hernia of the abdominal wall Frequent [Orphanet] 176 / 7739
33
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
34
 (HPO:0001052) Nevus flammeus Occasional [Orphanet] 88 / 7739
35
 (HPO:0001643) Patent ductus arteriosus Occasional [Orphanet] 228 / 7739
36
 (HPO:0004760) Congenital septal defect Occasional [Orphanet] 69 / 7739
37
 (HPO:0001939) Abnormality of metabolism/homeostasis Occasional [Orphanet] 328 / 7739
38
 (HPO:0004337) Abnormality of amino acid metabolism Occasional [Orphanet] 45 / 7739
39
 (HPO:0001419) X-linked recessive inheritance 189 / 7739
40
 (HPO:0400004) Long ear Frequent [Orphanet] 94 / 7739
41
 (OMIM) Mental retardation, moderate to severe 20 / 7739
42
 (HPO:0002120) Cerebral cortical atrophy Occasional [Orphanet] 187 / 7739
43
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Armfield et al. (1999) reported a family with 6 males with mental retardation in 3 generations, consistent with X-linked inheritance. Other features included short stature (6 of 6), small hands and feet (5 of 5), seizures (6 of ...