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Toriello-Lacassie-Droste syndrome

General Information (adopted from Orphanet):

Synonyms, Signs:	APLASIA CUTIS CONGENITA WITH EPIBULBAR DERMOIDS OES Oculoectodermal syndrome Aplasia cutis congenita - epibulbar dermoids
Number of Symptoms	55
OrphanetNr:	3339
OMIM Id:	600268
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence:	10 cases [Orphanet]
Inheritance:	Autosomal dominant 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:0002836)	Bladder exstrophy		8 / 7739
2	(HPO:0000047)	Hypospadias	Occasional [Orphanet]	250 / 7739
3	(HPO:0000079)	Abnormality of the urinary system	Occasional [Orphanet]	88 / 7739
4	(HPO:0005280)	Depressed nasal bridge	rare [HPO:skoehler]	381 / 7739
5	(HPO:0000520)	Proptosis	Frequent [Orphanet]	192 / 7739
6	(HPO:0000581)	Blepharophimosis	Frequent [Orphanet]	197 / 7739
7	(HPO:0000625)	Cleft eyelid	Occasional [Orphanet]	31 / 7739
8	(HPO:0000242)	Parietal bossing	rare [HPO:skoehler]	11 / 7739
9	(HPO:0004482)	Relative macrocephaly		44 / 7739
10	(HPO:0000256)	Macrocephaly	Frequent [Orphanet]	298 / 7739
11	(HPO:0000431)	Wide nasal bridge	rare [HPO:skoehler]	290 / 7739
12	(HPO:0000463)	Anteverted nares	Frequent [Orphanet]	305 / 7739
13	(HPO:0000506)	Telecanthus	Frequent [Orphanet]	156 / 7739
14	(HPO:0001999)	Abnormal facial shape	Occasional [Orphanet]	169 / 7739
15	(HPO:0000286)	Epicanthus	Frequent [Orphanet]	371 / 7739
16	(HPO:0003196)	Short nose	Frequent [Orphanet]	264 / 7739
17	(HPO:0001140)	Epibulbar dermoid	Very frequent [Orphanet]	11 / 7739
18	(HPO:0000483)	Astigmatism	rare [HPO:skoehler]	67 / 7739
19	(HPO:0007759)	Opacification of the corneal stroma	rare [HPO:skoehler]	77 / 7739
20	(HPO:0000486)	Strabismus	Frequent [Orphanet]	576 / 7739
21	(HPO:0000598)	Abnormality of the ear	Frequent [Orphanet]	98 / 7739
22	(HPO:0000752)	Hyperactivity		140 / 7739
23	(HPO:0001263)	Global developmental delay	rare [HPO:skoehler]	853 / 7739
24	(HPO:0001250)	Seizures		1245 / 7739
25	(HPO:0012639)	Abnormality of nervous system morphology	Very frequent [Orphanet]	25 / 7739
26	(HPO:0002251)	Aganglionic megacolon	Frequent [Orphanet]	78 / 7739
27	(HPO:0004279)	Short palm	Frequent [Orphanet]	323 / 7739
28	(HPO:0100559)	Lower limb asymmetry		30 / 7739
29	(HPO:0001561)	Polyhydramnios	Frequent [Orphanet]	191 / 7739
30	(HPO:0001510)	Growth delay		295 / 7739
31	(HPO:0004325)	Decreased body weight	Frequent [Orphanet]	492 / 7739
32	(HPO:0010816)	Epidermal nevus		2 / 7739
33	(HPO:0008065)	Aplasia/Hypoplasia of the skin	Very frequent [Orphanet]	81 / 7739
34	(HPO:0001057)	Aplasia cutis congenita		7 / 7739
35	(HPO:0000953)	Hyperpigmentation of the skin	Very frequent [Orphanet]	75 / 7739
36	(HPO:0030680)	Abnormality of cardiovascular system morphology	Frequent [Orphanet]	355 / 7739
37	(HPO:0001626)	Abnormality of the cardiovascular system	Frequent [Orphanet]	73 / 7739
38	(HPO:0002326)	Transient ischemic attack		13 / 7739
39	(HPO:0001680)	Coarctation of aorta		57 / 7739
40	(HPO:0001004)	Lymphedema		62 / 7739
41	(HPO:0008750)	Laryngeal atresia	Frequent [Orphanet]	3 / 7739
42	(HPO:0001252)	Muscular hypotonia	Frequent [Orphanet]	990 / 7739
43	(HPO:0007370)	Aplasia/Hypoplasia of the corpus callosum	Very frequent [Orphanet]	180 / 7739
44	(OMIM)	Rhabdosarcoma, embryonal		1 / 7739
45	(OMIM)	Moderate learning difficulties		1 / 7739
46	(HPO:0003812)	Phenotypic variability		129 / 7739
47	(HPO:0100702)	Arachnoid cyst	rare [HPO:skoehler]	15 / 7739
48	(MedDRA:10028047)	Moyamoya disease		4 / 7739
49	(MedDRA:10002537)	Anisometropia		1 / 7739
50	(HPO:0001355)	Megalencephaly		39 / 7739
51	(OMIM)	Dermolipoma		1 / 7739
52	(OMIM)	Hyperactive behavior, mild		1 / 7739
53	(OMIM)	Frontal parietal bossing (in some patients)		1 / 7739
54	(HPO:0012803)	Anisometropia		1 / 7739
55	(HPO:0000006)	Autosomal dominant inheritance		2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol	Variation	Clinical significance	Reference

Additional Information:

Clinical Description OMIM

Toriello et al. (1993) reported 2 unrelated boys with aplasia cutis congenita, epibulbar dermoids, and cutaneous hyperpigmentation. Additional features of 1 of these patients included giant cell granulomas and nonossifying fibromas (Toriello et al., 1999). Gardner and Viljoen ... Toriello et al. (1993) reported 2 unrelated boys with aplasia cutis congenita, epibulbar dermoids, and cutaneous hyperpigmentation. Additional features of 1 of these patients included giant cell granulomas and nonossifying fibromas (Toriello et al., 1999). Gardner and Viljoen (1994) described 2 unrelated South African girls with aplasia cutis congenita, epibulbar dermoids, and strabismus. Evers et al. (1994) described a similar case in a female child who also had macrocephaly. Lees et al. (2000) reported 2 unrelated patients with the combination of aplasia cutis congenita and epibulbar dermoids. In addition, 1 patient had bladder exstrophy with epispadias. Martin et al. (2007) reported the eleventh published case of oculoectodermal syndrome in a 6-year-old Chinese girl who had aplasia cutis, left epibulbar dermoid and left eyelid coloboma, macrocephaly, minor dysmorphism, and mild facial asymmetry. CT scan of the head revealed an arachnoid cyst, which the authors stated was the third to be described in the 6 patients with oculoectodermal syndrome who had undergone cranial imaging. Martin et al. (2007) suggested that arachnoid cyst may be a phenotypic feature of the syndrome. Federici et al. (2004) reported a patient with oculoectodermal syndrome who developed giant cell granulomas of the jaw. They reviewed the findings in 10 reported patients and suggested that the development of giant cell granulomas in childhood is part of what they referred to as a new tumor predisposition syndrome. Ardinger et al. (2007) reported 2 new cases and reviewed 13 previously reported cases of oculoectodermal syndrome. Their patient 1 had a scalp lesion histologically interpreted as a smooth muscle hamartoma (with some features suggestive of nevus psiloliparus). When they evaluated the 15 cases by the diagnostic criteria of Hunter (2006), 8 had a definite and 7 had a probable diagnosis of encephalocraniocutaneous lipomatosis (ECCL; see 176920). Ardinger et al. (2007) proposed that OES may be a mild variant of ECCL, differing primarily by lack of intracranial anomalies on brain imaging. Horev et al. (2011) described 2 patients with alopecia of the scalp and epibulbar dermoids, including 1 of the patients reported by Lees et al. (2000), both of whom also had coarctation of the descending aorta, cerebral arterioocclusive vasculopathy, and moyamoya-type collaterals presenting as seizures, recurrent transient ischemic attacks, and cerebrovascular accidents during early childhood. Horev et al. (2011) suggested that vascular findings are an integral part of the unifying diagnosis of OES and that disturbance in vasculogenesis contributes to the pathogenesis. Epibulbar dermoids occur with Goldenhar syndrome (164210) and with Proteus syndrome (176920). Aplasia cutis congenita occurs as an isolated defect (107600) or in association with gastrointestinal atresia in Carmi syndrome (226730), with limb defects in Adams-Oliver syndrome (100300), and with other associated abnormalities (see 302803, 100300, and 207731).

Symptoms & Signs

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