ADULT syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Pigment anomaly - ectrodactyly - hypodontia
acro-dermato-ungual-lacrimal-tooth syndrome
Number of Symptoms 53
OrphanetNr: 978
OMIM Id: 103285
ICD-10: Q87.2
UMLs: C1863204
MeSH: C538052
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 14 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: EEC syndrome and related syndrome
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
 -Rare skin disease
Genetic malformation syndrome with odontal and/or periodontal component
 -Rare genetic disease
Malformation syndrome with odontal and/or periodontal component
 -Rare developmental defect during embryogenesis
 -Rare odontologic disease
Syndrome with limb reduction defects
 -Rare bone disease
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0000691) Microdontia 104 / 7739
2
 (HPO:0002293) Alopecia of scalp 9 / 7739
3
 (HPO:0006357) Premature loss of permanent teeth 2 / 7739
4
 (HPO:0000668) Hypodontia 81 / 7739
5
 (HPO:0000271) Abnormality of the face Occasional [Orphanet] 108 / 7739
6
 (HPO:0000445) Wide nose Occasional [Orphanet] 190 / 7739
7
 (HPO:0006482) Abnormality of dental morphology Frequent [Orphanet] 81 / 7739
8
 (HPO:0000164) Abnormality of the teeth Very frequent [Orphanet] 291 / 7739
9
 (HPO:0000202) Oral cleft 120 / 7739
10
 (HPO:0000677) Oligodontia 41 / 7739
11
 (HPO:0002209) Sparse scalp hair 59 / 7739
12
 (HPO:0000606) Abnormality of the periorbital region Very frequent [Orphanet] 96 / 7739
13
 (HPO:0000426) Prominent nasal bridge Occasional [Orphanet] 121 / 7739
14
 (HPO:0000579) Nasolacrimal duct obstruction 9 / 7739
15
 (HPO:0000509) Conjunctivitis 47 / 7739
16
 (HPO:0006709) Aplasia/Hypoplasia of the nipples Frequent [Orphanet] 28 / 7739
17
 (HPO:0006610) Wide intermamillary distance 46 / 7739
18
 (HPO:0002561) Absent nipple 12 / 7739
19
 (HPO:0003187) Breast hypoplasia 17 / 7739
20
 (HPO:0002557) Hypoplastic nipples 33 / 7739
21
 (HPO:0100783) Breast aplasia Frequent [Orphanet] 19 / 7739
22
 (HPO:0100257) Ectrodactyly 27 / 7739
23
 (HPO:0001839) Split foot 28 / 7739
24
 (HPO:0006101) Finger syndactyly Very frequent [Orphanet] 198 / 7739
25
 (HPO:0001171) Split hand 72 / 7739
26
 (HPO:0010760) Absent toe Very frequent [Orphanet] 15 / 7739
27
 (HPO:0001770) Toe syndactyly Very frequent [Orphanet] 149 / 7739
28
 (HPO:0001159) Syndactyly 140 / 7739
29
 (HPO:0001803) Nail pits 17 / 7739
30
 (HPO:0007455) Adermatoglyphia 4 / 7739
31
 (HPO:0002164) Nail dysplasia 82 / 7739
32
 (HPO:0000958) Dry skin Very frequent [Orphanet] 152 / 7739
33
 (HPO:0000968) Ectodermal dysplasia 46 / 7739
34
 (HPO:0001597) Abnormality of the nail Very frequent [Orphanet] 115 / 7739
35
 (HPO:0001480) Freckling 13 / 7739
36
 (HPO:0001006) Hypotrichosis Frequent [Orphanet] 219 / 7739
37
 (HPO:0004334) Dermal atrophy 34 / 7739
38
 (HPO:0001596) Alopecia Frequent [Orphanet] 162 / 7739
39
 (HPO:0007587) Numerous pigmented freckles Very frequent [Orphanet] 22 / 7739
40
 (HPO:0002286) Fair hair 20 / 7739
41
 (HPO:0001805) Thick nail Very frequent [Orphanet] 96 / 7739
42
 (HPO:0000995) Melanocytic nevus Very frequent [Orphanet] 63 / 7739
43
 (HPO:0000963) Thin skin Very frequent [Orphanet] 96 / 7739
44
 (HPO:0200042) Skin ulcer Very frequent [Orphanet] 138 / 7739
45
 (HPO:0002215) Sparse axillary hair 21 / 7739
46
 (HPO:0000964) Eczema 81 / 7739
47
 (HPO:0002213) Fine hair Very frequent [Orphanet] 77 / 7739
48
 (HPO:0000992) Cutaneous photosensitivity 75 / 7739
49
 (OMIM) Dysplastic teeth 3 / 7739
50
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
51
 (OMIM) Premature scalp hair loss (>30 years) 1 / 7739
52
 (OMIM) Premature loss of secondary teeth 3 / 7739
53
 (OMIM) Mammary gland hypoplasia 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Propping and Zerres (1993) described a family with at least 7 living members who were affected by a hitherto undescribed syndrome with variable expression, which bore a close resemblance to the EEC syndrome. Features included ectrodactyly, syndactyly, finger- ...
Molecular genetics OMIM Amiel et al. (2001) reported a missense mutation in the TP63 gene (N6H; 603273.0011), located at chromosome 3q27, in an isolated ADULT syndrome case. The mutation was inherited from the healthy father, in whom freckling of the back ...