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Tricho-oculo-dermo-vertebral syndrome

General Information (adopted from Orphanet):

Synonyms, Signs:	TODV SYNDROME TRICHOOCULODERMOVERTEBRAL SYNDROME ALVES SYNDROME Ectodermal dysplasia - cataracts - kyphoscoliosis Alves-dos Santos-Castelo syndrome
Number of Symptoms	68
OrphanetNr:	3354
OMIM Id:	601701
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence:	No data available.
Inheritance:	Autosomal recessive [Orphanet]
Age of onset:	Neonatal Infancy [Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases:

Ectodermal dysplasia syndrome
-Rare developmental defect during embryogenesis
-Rare genetic disease
-Rare skin disease

Symptom Information: Sort by abundance

	Symptom Information	Symptom	Abundance	DB Freq
1	(HPO:0000506)	Telecanthus	Very frequent [Orphanet]	156 / 7739
2	(HPO:0000202)	Oral cleft	Occasional [Orphanet]	120 / 7739
3	(HPO:0000446)	Narrow nasal bridge	Very frequent [Orphanet]	29 / 7739
4	(HPO:0003196)	Short nose	Very frequent [Orphanet]	264 / 7739
5	(HPO:0000682)	Abnormality of dental enamel	Frequent [Orphanet]	102 / 7739
6	(HPO:0000159)	Abnormality of the lip	Very frequent [Orphanet]	33 / 7739
7	(HPO:0000492)	Abnormality of the eyelid	Very frequent [Orphanet]	41 / 7739
8	(HPO:0000248)	Brachycephaly	Occasional [Orphanet]	222 / 7739
9	(HPO:0001999)	Abnormal facial shape		169 / 7739
10	(HPO:0000252)	Microcephaly	Occasional [Orphanet]	832 / 7739
11	(HPO:0000621)	Entropion		12 / 7739
12	(HPO:0001128)	Trichiasis		4 / 7739
13	(HPO:0000175)	Cleft palate		349 / 7739
14	(HPO:0000581)	Blepharophimosis	Frequent [Orphanet]	197 / 7739
15	(HPO:0000606)	Abnormality of the periorbital region	Very frequent [Orphanet]	96 / 7739
16	(HPO:0000277)	Abnormality of the mandible	Very frequent [Orphanet]	394 / 7739
17	(HPO:0000677)	Oligodontia		41 / 7739
18	(HPO:0000204)	Cleft upper lip		193 / 7739
19	(HPO:0002223)	Absent eyebrow		21 / 7739
20	(HPO:0100840)	Aplasia/Hypoplasia of the eyebrow	Very frequent [Orphanet]	117 / 7739
21	(HPO:0008024)	Congenital nuclear cataract		5 / 7739
22	(HPO:0000518)	Cataract	Very frequent [Orphanet]	454 / 7739
23	(HPO:0001288)	Gait disturbance	Occasional [Orphanet]	318 / 7739
24	(HPO:0000819)	Diabetes mellitus		131 / 7739
25	(HPO:0100651)	Type I diabetes mellitus	Occasional [Orphanet]	44 / 7739
26	(HPO:0002803)	Congenital contracture	Occasional [Orphanet]	45 / 7739
27	(HPO:0012385)	Camptodactyly		113 / 7739
28	(HPO:0002804)	Arthrogryposis multiplex congenita		93 / 7739
29	(HPO:0002650)	Scoliosis	Very frequent [Orphanet]	705 / 7739
30	(HPO:0009473)	Joint contracture of the hand		84 / 7739
31	(HPO:0006101)	Finger syndactyly	Very frequent [Orphanet]	198 / 7739
32	(HPO:0001836)	Camptodactyly of toe		27 / 7739
33	(HPO:0001215)	Camptodactyly of 2nd-5th fingers		8 / 7739
34	(HPO:0003298)	Spina bifida occulta	Very frequent [Orphanet]	67 / 7739
35	(HPO:0100490)	Camptodactyly of finger	Occasional [Orphanet]	212 / 7739
36	(HPO:0002751)	Kyphoscoliosis		131 / 7739
37	(HPO:0004325)	Decreased body weight	Very frequent [Orphanet]	492 / 7739
38	(HPO:0004322)	Short stature	Very frequent [Orphanet]	1232 / 7739
39	(HPO:0002225)	Sparse pubic hair	Very frequent [Orphanet]	76 / 7739
40	(HPO:0001596)	Alopecia	Frequent [Orphanet]	162 / 7739
41	(HPO:0001804)	Hypoplastic fingernail	Occasional [Orphanet]	62 / 7739
42	(HPO:0001231)	Abnormality of the fingernails	Very frequent [Orphanet]	116 / 7739
43	(HPO:0008064)	Ichthyosis	Very frequent [Orphanet]	108 / 7739
44	(HPO:0007477)	Abnormal dermatoglyphics	Frequent [Orphanet]	72 / 7739
45	(HPO:0001805)	Thick nail	Very frequent [Orphanet]	96 / 7739
46	(HPO:0001006)	Hypotrichosis	Very frequent [Orphanet]	219 / 7739
47	(HPO:0010783)	Erythema	Frequent [Orphanet]	138 / 7739
48	(HPO:0001000)	Abnormality of skin pigmentation	Frequent [Orphanet]	105 / 7739
49	(HPO:0000978)	Bruising susceptibility	Occasional [Orphanet]	123 / 7739
50	(HPO:0000968)	Ectodermal dysplasia		46 / 7739
51	(HPO:0000958)	Dry skin	Very frequent [Orphanet]	152 / 7739
52	(HPO:0011362)	Abnormal hair quantity	Very frequent [Orphanet]	92 / 7739
53	(HPO:0000966)	Hypohidrosis		41 / 7739
54	(HPO:0002164)	Nail dysplasia		82 / 7739
55	(HPO:0002552)	Trichodysplasia		4 / 7739
56	(HPO:0000962)	Hyperkeratosis	Very frequent [Orphanet]	216 / 7739
57	(HPO:0000987)	Atypical scarring of skin	Occasional [Orphanet]	58 / 7739
58	(HPO:0004370)	Abnormality of temperature regulation	Very frequent [Orphanet]	58 / 7739
59	(HPO:0003394)	Muscle cramps	Occasional [Orphanet]	106 / 7739
60	(HPO:0003202)	Skeletal muscle atrophy	Occasional [Orphanet]	281 / 7739
61	(OMIM)	Bilateral nuclear cataract		1 / 7739
62	(HPO:0000007)	Autosomal recessive inheritance		2538 / 7739
63	(OMIM)	Scaling, hyperchromic spots on limbs		1 / 7739
64	(OMIM)	Oligodentia		1 / 7739
65	(OMIM)	Minor malformations of limbs		1 / 7739
66	(OMIM)	Excessive bruising and scarring after injuries and scratching		1 / 7739
67	(OMIM)	Hypohydrosis		1 / 7739
68	(OMIM)	Mild facial dysmorphia		1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol	Variation	Clinical significance	Reference

Additional Information:

Clinical Description OMIM

Alves et al. (1981) described a 20-year-old woman with an unusual ectodermal dysplasia/malformation syndrome comprised of generalized trichodysplasia, dry skin with scaling, hyperchromic spots on the limbs, hyperkeratosis (particularly intense on the soles), dermatoglyphic abnormalities, onychodysplasia, shortness of ... Alves et al. (1981) described a 20-year-old woman with an unusual ectodermal dysplasia/malformation syndrome comprised of generalized trichodysplasia, dry skin with scaling, hyperchromic spots on the limbs, hyperkeratosis (particularly intense on the soles), dermatoglyphic abnormalities, onychodysplasia, shortness of stature, kyphoscoliosis, unusual facial appearance, minor malformations of the limbs, bilateral nuclear cataract, narrow palpebral fissures, entropion, trichiasis, etc. The patient was the only affected member in a sibship of 4 whose parents were second cousins. Alves et al. (1981) suggested autosomal recessive inheritance. Gorlin (1997) suggested that this is the same condition as that described by Cote et al. (1982), Ladda et al. (1989), and Stoll et al. (1992). Cote et al. (1982) described the single case of a 16-year-girl with arthrogryposis and ectodermal dysplasia. She had been born with no nails and 'only one hair on the head.' Diabetes mellitus was diagnosed at the age of 2 years and thereafter was well controlled with insulin. At the age of 16 years she was only 120 cm tall. Arthrogryposis was most evident in the hands, but all joints seemed affected. She walked like a very old lady and could not squat without support. Her hair was thin and sparse; body hair and eyelashes were scanty. Cote et al. (1982) thought that the arthrogryposis, ectodermal dysplasia, growth retardation of prenatal onset, and diabetes mellitus were unlikely to have arisen independently. Ladda et al. (1989) described a newborn with distal contractures of hands and feet with decreased muscle mass in subcutaneous tissue. Other features included unilateral cleft lip and palate, brachycephaly, dry, scaly scalp with fine brittle hair with little pigmentation, few eyelashes, and no eyebrows. Stoll et al. (1992) described 2 daughters of a distantly consanguineous couple with oligodontia, enamel abnormalities, camptodactyly, longitudinally broken nails, growth retardation, joint contractures with amyotrophy, hypohidrotic skin with tendency to excessive bruising and scarring after injuries and scratching, kyphoscoliosis, mild facial dysmorphia, and microcephaly. The parents were Gypsies of the same ancestral origin. These parents, as well as the parents of earlier reported cases, were clinically normal. Stratton et al. (1993) reported a 10-year-old girl, born of unrelated Hispanic parents, with trichodysplasia, onychodysplasia, hyperpigmented lesions on her shins, and hyperkeratosis of the soles, consistent with an ectodermal dysplasia. Sweating and intelligence were normal, and there was no family history of a similar disorder. Stratton et al. (1993) proposed that the phenotype was similar to that reported by Alves et al. (1981). However, the patient reported by Stratton et al. (1993) did not have cataracts or scoliosis, prompting Castori et al. (2010) to suggest that this patient had the less severe autosomal dominant form of palmoplantar keratosis with congenital alopecia (104100).

Symptoms & Signs

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