AREDYLD syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Acrorenal field defect, ectodermal dysplasia, and lipoatrophic diabetes
Acrorenal defect - ectodermal dysplasia - diabetes
Number of Symptoms 59
OrphanetNr: 1133
OMIM Id: 207780
ICD-10: Q87.8
UMLs: C0342280
MeSH: C537427
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 cases - PMID: 6638067 [IBIS]; 1488989 [IBIS]
Inheritance: Autosomal recessive
- PMID: 6638067 [IBIS]
Age of onset: Neonatal
- PMID: 6638067 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: Ectodermal dysplasia syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare skin disease
Other rare diabetes mellitus
 -Rare endocrine disease
Rare genetic diabetes mellitus
 -Rare genetic disease
Syndromic renal or urinary tract malformation
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare renal disease

Comment:

In 1983 Pinheiro et al. reported a presumably new ectodermal dysplasialacrorenal syndrome with lipoatrophic diabetes and other manifestations, for which they suggested the name of AREDYLD (AcroRenal-Ectodermal- DYsplasia-Lipoatrophic-Diabetess) syndrome. The parents were consanguineous, and an autosomal recessive mode of inheritance was proposed. The patient we describe has an almost identical clinical picture, including ectodermal dysplasia, lipoatrophy, diabetes, and amastia, and to the best of our knowledge represents the second published case of the AREDYLD syndrome (PMID:1488989). The proposita is a 22-year-old woman from a mixed (triracial) family from the interior of Bahia. A sister, who died at 1% years, was born after a normal pregnancy at term with thin and sparse hair and a birth weight less than 2 kg; she never walked or talked (PMID:6638067).

Symptom Information: Sort by abundance 

1
 (HPO:0002875) Exertional dyspnea 6638067 IBIS 29 / 7739
2
 (HPO:0100578) Lipoatrophy Very frequent [Orphanet] 1488989; 6638067 IBIS 30 / 7739
3
 (HPO:0003758) Reduced subcutaneous adipose tissue 1488989; 6638067 IBIS 27 / 7739
4
 (HPO:0004322) Short stature Very frequent [Orphanet] 6638067 IBIS 1232 / 7739
5
 (HPO:0001518) Small for gestational age 6638067 IBIS 107 / 7739
6
 (HPO:0001511) Intrauterine growth retardation Very frequent [Orphanet] 6638067 IBIS 358 / 7739
7
 (HPO:0001762) Talipes equinovarus 6638067 IBIS 309 / 7739
8
 (HPO:0001763) Pes planus 6638067 IBIS 176 / 7739
9
 (HPO:0007477) Abnormal dermatoglyphics 6638067 IBIS 72 / 7739
10
 (HPO:0005914) Aplasia/Hypoplasia involving the metacarpal bones 6638067 IBIS 8 / 7739
11
 (HPO:0000303) Mandibular prognathia Very frequent [Orphanet] 6638067 IBIS 179 / 7739
12
 (HPO:0004437) Cranial hyperostosis Very frequent [Orphanet] 6638067 IBIS 55 / 7739
13
 (HPO:0011220) Prominent forehead 6638067 IBIS 137 / 7739
14
 (HPO:0100783) Breast aplasia Very frequent [Orphanet] 1488989; 6638067 IBIS 19 / 7739
15
 (HPO:0003187) Breast hypoplasia Very frequent [Orphanet] hallmark [HPO] 6638067 IBIS 17 / 7739
16
 (HPO:0004626) Lumbar scoliosis 6638067 IBIS 5 / 7739
17
 (HPO:0005775) Multiple skeletal anomalies 6638067 IBIS 2 / 7739
18
 (HPO:0002555) Absent pubic hair 1488989 IBIS 3 / 7739
19
 (HPO:0008070) Sparse hair 1488989; 6638067 IBIS 94 / 7739
20
 (HPO:0004528) Generalized hypotrichosis Very frequent [Orphanet] 6638067 IBIS 18 / 7739
21
 (HPO:0004782) Hypotrichosis of the scalp 6638067 IBIS 7 / 7739
22
 (HPO:0002217) Slow-growing hair 1488989 IBIS 22 / 7739
23
 (HPO:0002215) Sparse axillary hair Very frequent [Orphanet] 1488989; 6638067 IBIS 21 / 7739
24
 (HPO:0002225) Sparse pubic hair Very frequent [Orphanet] 6638067 IBIS 76 / 7739
25
 (HPO:0001231) Abnormality of the fingernails 1488989 IBIS 116 / 7739
26
 (HPO:0000966) Hypohidrosis 1488989 IBIS 41 / 7739
27
 (HPO:0005214) Intestinal obstruction 6638067 IBIS 35 / 7739
28
 (HPO:0001433) Hepatosplenomegaly 6638067 IBIS 78 / 7739
29
 (HPO:0008665) Clitoral hypertrophy 6638067 IBIS 10 / 7739
30
 (HPO:0000064) Hypoplastic labia minora 6638067 IBIS 7 / 7739
31
 (HPO:0000876) Oligomenorrhea 1488989 IBIS 13 / 7739
32
 (HPO:0000142) Abnormality of the vagina 6638067 IBIS 24 / 7739
33
 (HPO:0000271) Abnormality of the face 6638067 IBIS 108 / 7739
34
 (HPO:0011219) Short face 1488989 IBIS 1 / 7739
35
 (HPO:0000188) Short upper lip 6638067 IBIS 8 / 7739
36
 (HPO:0000164) Abnormality of the teeth 1488989 IBIS 291 / 7739
37
 (HPO:0000682) Abnormality of dental enamel Very frequent [Orphanet] 6638067 IBIS 102 / 7739
38
 (HPO:0006481) Abnormality of primary teeth 6638067 IBIS 2 / 7739
39
 (HPO:0000674) Anodontia 6638067 IBIS 18 / 7739
40
 (HPO:0008498) No permanent dentition 6638067 IBIS 2 / 7739
41
 (HPO:0000668) Hypodontia 1488989 IBIS 81 / 7739
42
 (HPO:0000699) Diastema 1488989 IBIS 10 / 7739
43
 (HPO:0000695) Natal tooth Very frequent [Orphanet] 6638067 IBIS 42 / 7739
44
 (HPO:0000319) Smooth philtrum Very frequent [Orphanet] 6638067 IBIS 72 / 7739
45
 (HPO:0000366) Abnormality of the nose 6638067 IBIS 56 / 7739
46
 (HPO:0000420) Short nasal septum 6638067 IBIS 4 / 7739
47
 (HPO:0000437) Depressed nasal tip Very frequent [Orphanet] 6638067 IBIS 17 / 7739
48
 (HPO:0000426) Prominent nasal bridge 6638067 IBIS 121 / 7739
49
 (HPO:0200006) Slanting of the palpebral fissure 6638067 IBIS 2 / 7739
50
 (HPO:0000506) Telecanthus 6638067 IBIS 156 / 7739
51
 (HPO:0004404) Abnormality of the nipple 6638067 IBIS 54 / 7739
52
 (HPO:0009912) Abnormality of the tragus Very frequent [Orphanet] 6638067 IBIS 12 / 7739
53
 (HPO:0000358) Posteriorly rotated ears Very frequent [Orphanet] hallmark [HPO] 6638067 IBIS 163 / 7739
54
 (HPO:0000958) Dry skin 1488989 IBIS 152 / 7739
55
 (HPO:0000968) Ectodermal dysplasia 1488989 IBIS 46 / 7739
56
 (HPO:0001015) Prominent superficial veins 6638067 IBIS 7 / 7739
57
 (HPO:0000077) Abnormality of the kidney 6638067 IBIS 73 / 7739
58
 (HPO:0005978) Type II diabetes mellitus Very frequent [Orphanet] 1488989; 6638067 IBIS 68 / 7739
59
 (HPO:0100853) Hypoplastic areola 6638067 IBIS 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: