Lacrimo-auriculo-dento-digital syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: LADD
Lacrimo-auriculo-radio-dental syndrome
levy-hollister syndrome
LARD syndrome
LADD syndrome
Number of Symptoms 97
OrphanetNr: 2363
OMIM Id: 149730
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 20 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
Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare genetic disease
Malformation syndrome with odontal and/or periodontal component
 -Rare developmental defect during embryogenesis
 -Rare odontologic disease
Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare developmental defect during embryogenesis
Nose and cavum anomaly
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare otorhinolaryngologic disease
Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
 -Rare bone disease
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0000112) Nephropathy Occasional [Orphanet] 92 / 7739
2
 (HPO:0008743) Coronal hypospadias 1 / 7739
3
 (HPO:0009741) Nephrosclerosis Occasional [Orphanet] 2 / 7739
4
 (HPO:0008678) Renal hypoplasia/aplasia Occasional [Orphanet] 127 / 7739
5
 (HPO:0000047) Hypospadias Occasional [Orphanet] 250 / 7739
6
 (HPO:0000104) Renal agenesis 68 / 7739
7
 (HPO:0000506) Telecanthus Frequent [Orphanet] 156 / 7739
8
 (HPO:0006482) Abnormality of dental morphology Very frequent [Orphanet] 81 / 7739
9
 (HPO:0000682) Abnormality of dental enamel Very frequent [Orphanet] 102 / 7739
10
 (HPO:0011065) Conical incisor 5 / 7739
11
 (HPO:0000316) Hypertelorism 644 / 7739
12
 (HPO:0000348) High forehead Occasional [Orphanet] 157 / 7739
13
 (HPO:0000277) Abnormality of the mandible Occasional [Orphanet] 394 / 7739
14
 (HPO:0000337) Broad forehead Occasional [Orphanet] 116 / 7739
15
 (HPO:0000680) Delayed eruption of primary teeth 10 / 7739
16
 (HPO:0000494) Downslanted palpebral fissures 328 / 7739
17
 (HPO:0005105) Abnormal nasal morphology Frequent [Orphanet] 114 / 7739
18
 (HPO:0000629) Periorbital fullness 13 / 7739
19
 (HPO:0010285) Oral synechia Frequent [Orphanet] 31 / 7739
20
 (HPO:0006297) Hypoplasia of dental enamel 64 / 7739
21
 (HPO:0000202) Oral cleft Occasional [Orphanet] 120 / 7739
22
 (HPO:0009804) Reduced number of teeth Frequent [Orphanet] 137 / 7739
23
 (HPO:0000670) Carious teeth Frequent [Orphanet] 145 / 7739
24
 (HPO:0000490) Deeply set eye Occasional [Orphanet] 131 / 7739
25
 (HPO:0000239) Large fontanelles Occasional [Orphanet] 135 / 7739
26
 (HPO:0010286) Abnormality of the salivary glands Frequent [Orphanet] 7 / 7739
27
 (HPO:0000679) Taurodontia Occasional [Orphanet] 27 / 7739
28
 (HPO:0009740) Aplasia of the parotid gland 1 / 7739
29
 (HPO:0000691) Microdontia Very frequent [Orphanet] 104 / 7739
30
 (HPO:0000217) Xerostomia Frequent [Orphanet] 35 / 7739
31
 (HPO:0000198) Absence of Stensen duct 4 / 7739
32
 (HPO:0000668) Hypodontia 81 / 7739
33
 (HPO:0000453) Choanal atresia Occasional [Orphanet] 76 / 7739
34
 (HPO:0009796) Branchial cyst Occasional [Orphanet] 32 / 7739
35
 (HPO:0100533) Inflammatory abnormality of the eye Very frequent [Orphanet] 70 / 7739
36
 (HPO:0000522) Alacrima Very frequent [Orphanet] 14 / 7739
37
 (HPO:0000579) Nasolacrimal duct obstruction 9 / 7739
38
 (HPO:0007732) Lacrimal gland hypoplasia 4 / 7739
39
 (HPO:0000620) Dacryocystitis 4 / 7739
40
 (HPO:0007892) Hypoplasia of the lacrimal puncta 1 / 7739
41
 (HPO:0000508) Ptosis Occasional [Orphanet] 459 / 7739
42
 (HPO:0007900) Hypoplastic lacrimal duct 2 / 7739
43
 (HPO:0001092) Absent lacrimal punctum 6 / 7739
44
 (HPO:0000481) Abnormality of the cornea Frequent [Orphanet] 124 / 7739
45
 (HPO:0007656) Lacrimal gland aplasia 2 / 7739
46
 (HPO:0000632) Lacrimation abnormality Very frequent [Orphanet] 42 / 7739
47
 (HPO:0000572) Visual loss Frequent [Orphanet] 272 / 7739
48
 (HPO:0100583) Corneal perforation 4 / 7739
49
 (HPO:0000495) Recurrent corneal erosions 20 / 7739
50
 (HPO:0008038) Aplastic/hypoplastic lacrimal glands 1 / 7739
51
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
52
 (HPO:0009738) Abnormality of the antihelix Frequent [Orphanet] 37 / 7739
53
 (HPO:0008544) Abnormally folded helix Very frequent [Orphanet] 24 / 7739
54
 (HPO:0000378) Cupped ear 34 / 7739
55
 (HPO:0000410) Mixed hearing impairment 22 / 7739
56
 (HPO:0009906) Aplasia/Hypoplasia of the earlobes Very frequent [Orphanet] 41 / 7739
57
 (HPO:0000356) Abnormality of the outer ear Very frequent [Orphanet] 85 / 7739
58
 (HPO:0000407) Sensorineural hearing impairment Frequent [Orphanet] 524 / 7739
59
 (HPO:0000405) Conductive hearing impairment Very frequent [Orphanet] 164 / 7739
60
 (HPO:0001245) Small thenar eminence 10 / 7739
61
 (HPO:0006101) Finger syndactyly Frequent [Orphanet] 198 / 7739
62
 (HPO:0009637) Absent proximal phalanx of thumb 1 / 7739
63
 (HPO:0004209) Clinodactyly of the 5th finger Frequent [Orphanet] 288 / 7739
64
 (HPO:0009944) Partial duplication of thumb phalanx 7 / 7739
65
 (HPO:0002818) Abnormality of the radius Occasional [Orphanet] 96 / 7739
66
 (HPO:0001172) Abnormality of the thumb Frequent [Orphanet] 103 / 7739
67
 (HPO:0100258) Preaxial polydactyly 39 / 7739
68
 (HPO:0002984) Hypoplasia of the radius 44 / 7739
69
 (HPO:0001233) 2-3 finger syndactyly 7 / 7739
70
 (HPO:0010055) Broad hallux Frequent [Orphanet] 56 / 7739
71
 (HPO:0001177) Preaxial hand polydactyly Frequent [Orphanet] 59 / 7739
72
 (HPO:0003022) Hypoplasia of the ulna 40 / 7739
73
 (HPO:0000772) Abnormality of the ribs Occasional [Orphanet] 146 / 7739
74
 (HPO:0001863) Toe clinodactyly Very frequent [Orphanet] 12 / 7739
75
 (HPO:0009486) Radial deviation of the hand Occasional [Orphanet] 13 / 7739
76
 (HPO:0003974) Absent radius 26 / 7739
77
 (HPO:0002974) Radioulnar synostosis Occasional [Orphanet] 52 / 7739
78
 (HPO:0009462) Radial deviation of the 3rd finger 2 / 7739
79
 (HPO:0009601) Aplasia/Hypoplasia of the thumb Occasional [Orphanet] 80 / 7739
80
 (HPO:0002577) Abnormality of the stomach Occasional [Orphanet] 84 / 7739
81
 (HPO:0000974) Hyperextensible skin 59 / 7739
82
 (OMIM) Dental caries, severe 5 / 7739
83
 (MedDRA:10030963) Oral candidiasis 4 / 7739
84
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
85
 (HPO:0005707) Bilateral triphalangeal thumbs 5 / 7739
86
 (OMIM) Hearing loss, mixed conductive-sensorineural 2 / 7739
87
 (OMIM) Absent parotid gland 1 / 7739
88
 (OMIM) Syndactyly, 2-3, 3-4 toe 1 / 7739
89
 (OMIM) Aplastic/hypoplastic lacrimal puncta 1 / 7739
90
 (HPO:0011420) Death Occasional [Orphanet] 184 / 7739
91
 (MedDRA:10072138) Limbal stem cell deficiency 1 / 7739
92
 (OMIM) Broad halluces 12 / 7739
93
 (OMIM) Partially reduced visually acuity 1 / 7739
94
 (MedDRA:10011844) Dacryocystitis 4 / 7739
95
 (OMIM) Corneal sensitivity impairment (hypesthesia) 1 / 7739
96
 (HPO:0001199) Triphalangeal thumb Very frequent [Orphanet] 56 / 7739
97
 (OMIM) Clinodactyly, 3,5 finger 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Hollister et al. (1973) described a Mexican man and 5 of his 8 children (4 girls and 1 boy) with a similar syndrome, which the authors designated lacrimoauriculodentodigital (LADD) syndrome. The lacrimal feature was aplasia or hypoplasia of ...
Molecular genetics OMIM Rohmann et al. (2006) sequenced the 24 coding and noncoding exons of the FGFR2 gene (176943), which maps within the critical region on 10q26 defined for LADD syndrome, and detected a heterozygous mutation in each affected family member ...