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Blepharophimosis-intellectual deficit syndrome, Ohdo type

General Information (adopted from Orphanet):

Synonyms, Signs:	OHDO BLEPHAROPHIMOSIS SYNDROME MENTAL RETARDATION, CONGENITAL HEART DISEASE, BLEPHAROPHIMOSIS, BLEPHAROPTOSIS, AND HYPOPLASTIC TEETH Blepharophimosis syndrome, Ohdo type Ohdo-Madokoro-Sonoda syndrome Ohdo syndrome BMRS, Ohdo type
Number of Symptoms	78
OrphanetNr:	2728
OMIM Id:	249620
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence:	No data available.
Inheritance:	Not applicable [Orphanet]
Age of onset:	Neonatal Infancy [Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases:

Blepharophimosis-intellectual deficit syndrome
-Rare developmental defect during embryogenesis
-Rare genetic disease
-Rare neurologic disease

Symptom Information: Sort by abundance

	Symptom Information	Symptom	Abundance	DB Freq
1	(HPO:0000093)	Proteinuria		169 / 7739
2	(HPO:0000028)	Cryptorchidism		347 / 7739
3	(HPO:0000035)	Abnormality of the testis	Very frequent [Orphanet]	296 / 7739
4	(HPO:0000046)	Scrotal hypoplasia	Occasional [Orphanet]	54 / 7739
5	(HPO:0000691)	Microdontia	Very frequent [Orphanet]	104 / 7739
6	(HPO:0000343)	Long philtrum		262 / 7739
7	(HPO:0005105)	Abnormal nasal morphology	Frequent [Orphanet]	114 / 7739
8	(HPO:0003196)	Short nose		264 / 7739
9	(HPO:0006482)	Abnormality of dental morphology	Frequent [Orphanet]	81 / 7739
10	(HPO:0000194)	Open mouth	Frequent [Orphanet]	70 / 7739
11	(HPO:0000682)	Abnormality of dental enamel	Frequent [Orphanet]	102 / 7739
12	(HPO:0000687)	Widely spaced teeth		40 / 7739
13	(HPO:0000535)	Sparse and thin eyebrow		76 / 7739
14	(HPO:0000233)	Thin vermilion border		124 / 7739
15	(HPO:0000445)	Wide nose	Very frequent [Orphanet]	190 / 7739
16	(HPO:0000695)	Natal tooth	Occasional [Orphanet]	42 / 7739
17	(HPO:0005280)	Depressed nasal bridge	Very frequent [Orphanet]	381 / 7739
18	(HPO:0000174)	Abnormality of the palate	Occasional [Orphanet]	298 / 7739
19	(HPO:0010804)	Tented upper lip vermilion	Frequent [Orphanet]	47 / 7739
20	(HPO:0000286)	Epicanthus	Frequent [Orphanet]	371 / 7739
21	(HPO:0000581)	Blepharophimosis	Very frequent [Orphanet]	197 / 7739
22	(HPO:0000277)	Abnormality of the mandible	Frequent [Orphanet]	394 / 7739
23	(HPO:0000293)	Full cheeks	Very frequent [Orphanet]	85 / 7739
24	(HPO:0000232)	Everted lower lip vermilion	Frequent [Orphanet]	90 / 7739
25	(HPO:0000684)	Delayed eruption of teeth	Frequent [Orphanet]	117 / 7739
26	(HPO:0000463)	Anteverted nares		305 / 7739
27	(HPO:0000160)	Narrow mouth	Very frequent [Orphanet]	188 / 7739
28	(HPO:0000319)	Smooth philtrum		72 / 7739
29	(HPO:0000347)	Micrognathia		426 / 7739
30	(HPO:0000298)	Mask-like facies	Very frequent [Orphanet]	44 / 7739
31	(HPO:0000431)	Wide nasal bridge		290 / 7739
32	(HPO:0000508)	Ptosis	Very frequent [Orphanet]	459 / 7739
33	(HPO:0000572)	Visual loss	Frequent [Orphanet]	272 / 7739
34	(HPO:0000540)	Hypermetropia	Frequent [Orphanet]	99 / 7739
35	(HPO:0000486)	Strabismus	Frequent [Orphanet]	576 / 7739
36	(HPO:0000639)	Nystagmus	Frequent [Orphanet]	555 / 7739
37	(HPO:0000545)	Myopia	Frequent [Orphanet]	286 / 7739
38	(HPO:0000377)	Abnormality of the pinna		111 / 7739
39	(HPO:0000357)	Abnormal location of ears	Frequent [Orphanet]	328 / 7739
40	(HPO:0008551)	Microtia		98 / 7739
41	(HPO:0000407)	Sensorineural hearing impairment	Frequent [Orphanet]	524 / 7739
42	(HPO:0000402)	Stenosis of the external auditory canal		22 / 7739
43	(HPO:0008772)	Aplasia/Hypoplasia of the external ear	Frequent [Orphanet]	67 / 7739
44	(HPO:0000365)	Hearing impairment		539 / 7739
45	(HPO:0000405)	Conductive hearing impairment	Frequent [Orphanet]	164 / 7739
46	(HPO:0000372)	Abnormality of the auditory canal	Frequent [Orphanet]	49 / 7739
47	(HPO:0000356)	Abnormality of the outer ear	Frequent [Orphanet]	85 / 7739
48	(HPO:0002015)	Dysphagia	Very frequent [Orphanet]	301 / 7739
49	(HPO:0001250)	Seizures	Occasional [Orphanet]	1245 / 7739
50	(HPO:0001249)	Intellectual disability		1089 / 7739
51	(HPO:0002167)	Neurological speech impairment	Frequent [Orphanet]	308 / 7739
52	(HPO:0000821)	Hypothyroidism	Frequent [Orphanet]	141 / 7739
53	(HPO:0005990)	Thyroid hypoplasia	Occasional [Orphanet]	21 / 7739
54	(HPO:0001836)	Camptodactyly of toe	Frequent [Orphanet]	27 / 7739
55	(HPO:0001760)	Abnormality of the foot		96 / 7739
56	(HPO:0003045)	Abnormality of the patella	Occasional [Orphanet]	33 / 7739
57	(HPO:0011302)	Long palm	Frequent [Orphanet]	70 / 7739
58	(HPO:0004209)	Clinodactyly of the 5th finger		288 / 7739
59	(HPO:0001833)	Long foot	Frequent [Orphanet]	33 / 7739
60	(HPO:0001382)	Joint hypermobility	Occasional [Orphanet]	231 / 7739
61	(HPO:0001388)	Joint laxity		117 / 7739
62	(HPO:0001763)	Pes planus	Frequent [Orphanet]	176 / 7739
63	(HPO:0011968)	Feeding difficulties		240 / 7739
64	(HPO:0008872)	Feeding difficulties in infancy		153 / 7739
65	(HPO:0004322)	Short stature		1232 / 7739
66	(HPO:0001629)	Ventricular septal defect	Frequent [Orphanet]	316 / 7739
67	(HPO:0001631)	Atria septal defect	Frequent [Orphanet]	274 / 7739
68	(HPO:0002093)	Respiratory insufficiency	Occasional [Orphanet]	410 / 7739
69	(HPO:0001252)	Muscular hypotonia	Very frequent [Orphanet]	990 / 7739
70	(HPO:0008947)	Infantile muscular hypotonia		482 / 7739
71	(HPO:0001324)	Muscle weakness		859 / 7739
72	(HPO:0010547)	Muscle flaccidity		466 / 7739
73	(OMIM)	Overriding 3rd toes		2 / 7739
74	(OMIM)	Long, flat philtrum		5 / 7739
75	(HPO:0000006)	Autosomal dominant inheritance		2518 / 7739
76	(OMIM)	Short upturned nose		6 / 7739
77	(HPO:0012758)	Neurodevelopmental delay	Very frequent [Orphanet]	949 / 7739
78	(OMIM)	Thin vermilion		3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol	Variation	Clinical significance	Reference

Additional Information:

Clinical Description OMIM

Ohdo et al. (1986) described the combination of mental retardation, congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth in a brother and sister and in a daughter of their paternal aunt. They concluded that the disorder had not ... Ohdo et al. (1986) described the combination of mental retardation, congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth in a brother and sister and in a daughter of their paternal aunt. They concluded that the disorder had not been reported before. Say and Barber (1987) and Biesecker (1991) reported cases. Buntinx and Majewski (1990) reported a blepharophimosis syndrome that must be considered in the differential diagnosis. Maat-Kievit et al. (1993) reported 2 unrelated affected boys and compared their findings with those in 5 previously reported patients. Male patients had cryptorchidism and scrotal hypoplasia. Lopes and Guion-Almeida (1997) described a case of Ohdo syndrome with the additional features of cleft palate and bladder diverticula. Mhanni et al. (1998) reported vertical transmission of Ohdo syndrome from mother to son, suggestive of autosomal dominant inheritance. The possibility of X-linked or mitochondrial inheritance cannot be ruled out by this case. Taken together with the previously reported cases, the authors suggested that autosomal dominant inheritance with incomplete penetrance is most likely. Genetic heterogeneity is also possible. Stoll (1999) described a possible case of Ohdo syndrome. White et al. (2003) reported 2 cases of Ohdo syndrome, one with mild and the other with severe features, illustrating the phenotypic variability of the condition. The authors noted that all cases with the severe phenotype have been sporadic. Subtelomeric FISH studies of all chromosome arms on their 2 cases showed no abnormality. Verloes et al. (2006) described 11 patients from 8 families with a blepharophimosis-mental retardation syndrome (BMRS) phenotype and suggested a classification of BMRS into 5 groups: Group 1, del(3p) syndrome (613792); Group 2, BMRS, Ohdo type, limited to the original patients of Ohdo et al. (1986); Group 3, BMRS, SBBYS type (603736), with distinctive dysmorphic features and variable anomalies including heart defect, optic atrophy, deafness, hypoplastic teeth, cleft palate, joint limitations, and hypothyroidism; Group 4, BMRS, MKB type (300895), with coarse, triangular face; and Group 5, BMRS, Verloes type (604314), with severe microcephaly, hypsarrhythmia, adducted thumbs, cleft palate, and abnormal genitalia. Day et al. (2008) examined 8 unrelated patients with Ohdo syndrome and reviewed the previous 25 patients reported in the literature. One family had a reported recurrence of the syndrome, resulting in pregnancy termination at 20 weeks' gestation. Day et al. (2008) stated that the most important clue to diagnosis is the facial gestalt and emphasized the severity of the psychomotor delay. Noting that 3 of their patients had thyroid abnormalities, they suggested that Ohdo and Young-Simpson (YSS; 603736) syndromes may be the same condition. Clayton-Smith et al. (2011) described Young-Simpson syndrome, which they called Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS), as a variant of Ohdo syndrome. In patients with SBBYSS, they identified heterozygous mutations in the KAT6B gene (605880); however, they did not study patients reported by Ohdo et al. (1986), Say and Barber (1987), or Biesecker (1991).

Symptoms & Signs

	Field	Query
	Disease
	Symptom