Absence of fingerprints - congenital milia

General Information (adopted from Orphanet):

Synonyms, Signs: ECTODERMAL DYSPLASIA, ABSENT DERMATOGLYPHIC PATTERN, CHANGES IN NAILS, AND SIMIAN CREASE
BASAN SYNDROME
Baird syndrome
Absence of dermatoglyphics - congenital milia
Number of Symptoms 37
OrphanetNr: 1658
OMIM Id: 129200
ICD-10: Q82.8
UMLs:
MeSH:
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: Other epidermis disorder
 -Rare skin disease
Other genetic epidermal disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0100490) Camptodactyly of finger Frequent [Orphanet] 212 / 7739
2
 (HPO:0004209) Clinodactyly of the 5th finger 288 / 7739
3
 (HPO:0005830) Flexion contracture of toe 9 / 7739
4
 (HPO:0001182) Tapered finger 93 / 7739
5
 (HPO:0000954) Single transverse palmar crease 162 / 7739
6
 (HPO:0010621) Cutaneous syndactyly of toes rare [HPO:skoehler] 36 / 7739
7
 (HPO:0001371) Flexion contracture 220 / 7739
8
 (HPO:0007598) Bilateral single transverse palmar creases 13 / 7739
9
 (HPO:0009775) Amniotic constriction ring Occasional [Orphanet] 21 / 7739
10
 (HPO:0011431) Fetal fifth finger clinodactyly 14 / 7739
11
 (HPO:0000963) Thin skin Very frequent [Orphanet] 96 / 7739
12
 (HPO:0001072) Thickened skin Frequent [Orphanet] 87 / 7739
13
 (HPO:0000956) Acanthosis nigricans 54 / 7739
14
 (HPO:0007477) Abnormal dermatoglyphics Very frequent [Orphanet] 72 / 7739
15
 (HPO:0007455) Adermatoglyphia 4 / 7739
16
 (HPO:0000988) Skin rash Frequent [Orphanet] 98 / 7739
17
 (HPO:0000968) Ectodermal dysplasia 46 / 7739
18
 (HPO:0001056) Milia 24 / 7739
19
 (HPO:0004370) Abnormality of temperature regulation Frequent [Orphanet] 58 / 7739
20
 (OMIM) Facial milia, congenital, especially on chin 1 / 7739
21
 (OMIM) Decreased sweating of palms and soles 1 / 7739
22
 (OMIM) Hyperkeratosis, mild 3 / 7739
23
 (OMIM) Vesicles, congenital, on fingers and soles 1 / 7739
24
 (OMIM) Clubbed appearance (in some patients) 1 / 7739
25
 (HPO:0030350) Erythematous papule Very frequent [Orphanet] 123 / 7739
26
 (OMIM) Transverse grooving 1 / 7739
27
 (OMIM) Blistering of palms in hot weather (in some patients) 1 / 7739
28
 (OMIM) Increased numbers of capillaries in collagen of dermis 1 / 7739
29
 (OMIM) Fissuring of palms and/or soles in hot or cold weather 1 / 7739
30
 (OMIM) Collagen bundles of dermis coarse and twisted 1 / 7739
31
 (OMIM) Longitudinal grooving and splitting 1 / 7739
32
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
33
 (OMIM) Absent or reduced number of sweat glands 1 / 7739
34
 (OMIM) Thick calluses on soles of feet 1 / 7739
35
 (OMIM) Lack of epidermal ridges on palms and soles 1 / 7739
36
 (OMIM) Rough, thick palmar skin 1 / 7739
37
 (OMIM) Irregularity of rete pegs 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Complete congenital absence of dermatoglyphs is a rare syndrome characterized by autosomal dominant inheritance of the lack of ridges on palms and soles, neonatal acral blisters and facial milia, adult traumatic blistering and fissuring, absent or reduced sweating ...
Clinical Description OMIM Baird (1964) reported an Irish American family in which 13 persons in 3 generations showed absent dermal ridges. The affected persons all had transient congenital milia (small white papules, especially on the face, representing retention cysts). Some affected ...
Molecular genetics OMIM Limova et al. (1993) reported a 34-year-old woman of Swedish descent with absence of fingerprints, who in infancy had erosions of the hands that healed uneventfully and in childhood developed mild contractures of both fifth fingers. She reported ...