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Okamoto syndrome

General Information (adopted from Orphanet):

Synonyms, Signs:	OKAMOTO SYNDROME
Number of Symptoms	38
OrphanetNr:	2729
OMIM Id:	604916
ICD-10:	Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence:	2 cases [Orphanet]
Inheritance:	Unknown [Orphanet]
Age of onset:	Neonatal Infancy [Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases:

Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
-Rare developmental defect during embryogenesis
-Rare genetic disease
Rare genetic intellectual deficit with developmental anomaly
-Rare genetic disease
Rare intellectual deficit with developmental anomaly
-Rare neurologic disease

Symptom Information: Sort by abundance

	Symptom Information	Symptom	Abundance	DB Freq
1	(HPO:0008678)	Renal hypoplasia/aplasia	Occasional [Orphanet]	127 / 7739
2	(HPO:0000130)	Abnormality of the uterus	Occasional [Orphanet]	86 / 7739
3	(HPO:0000072)	Hydroureter	Very frequent [Orphanet]	146 / 7739
4	(HPO:0003196)	Short nose	Very frequent [Orphanet]	264 / 7739
5	(HPO:0002714)	Downturned corners of mouth	Very frequent [Orphanet]	98 / 7739
6	(HPO:0000520)	Proptosis	Very frequent [Orphanet]	192 / 7739
7	(HPO:0000252)	Microcephaly	Occasional [Orphanet]	832 / 7739
8	(HPO:0011800)	Midface retrusion	Very frequent [Orphanet]	221 / 7739
9	(HPO:0000499)	Abnormality of the eyelashes	Very frequent [Orphanet]	35 / 7739
10	(HPO:0000316)	Hypertelorism	Occasional [Orphanet]	644 / 7739
11	(HPO:0000194)	Open mouth	Very frequent [Orphanet]	70 / 7739
12	(HPO:0000343)	Long philtrum	Frequent [Orphanet]	262 / 7739
13	(HPO:0005280)	Depressed nasal bridge	Very frequent [Orphanet]	381 / 7739
14	(HPO:0000286)	Epicanthus	Frequent [Orphanet]	371 / 7739
15	(HPO:0000664)	Synophrys	Frequent [Orphanet]	112 / 7739
16	(HPO:0000463)	Anteverted nares	Very frequent [Orphanet]	305 / 7739
17	(HPO:0000232)	Everted lower lip vermilion	Frequent [Orphanet]	90 / 7739
18	(HPO:0000465)	Webbed neck	Frequent [Orphanet]	81 / 7739
19	(HPO:0000174)	Abnormality of the palate	Very frequent [Orphanet]	298 / 7739
20	(HPO:0010804)	Tented upper lip vermilion	Occasional [Orphanet]	47 / 7739
21	(HPO:0000357)	Abnormal location of ears	Very frequent [Orphanet]	328 / 7739
22	(HPO:0000411)	Protruding ear	Occasional [Orphanet]	140 / 7739
23	(HPO:0001385)	Hip dysplasia	Very frequent [Orphanet]	242 / 7739
24	(HPO:0006101)	Finger syndactyly	Occasional [Orphanet]	198 / 7739
25	(HPO:0001744)	Splenomegaly	Occasional [Orphanet]	337 / 7739
26	(HPO:0002023)	Anal atresia	Occasional [Orphanet]	135 / 7739
27	(HPO:0002566)	Intestinal malrotation	Occasional [Orphanet]	89 / 7739
28	(HPO:0004325)	Decreased body weight	Very frequent [Orphanet]	492 / 7739
29	(HPO:0001231)	Abnormality of the fingernails	Frequent [Orphanet]	116 / 7739
30	(HPO:0011362)	Abnormal hair quantity	Very frequent [Orphanet]	92 / 7739
31	(HPO:0004760)	Congenital septal defect	Frequent [Orphanet]	69 / 7739
32	(HPO:0001643)	Patent ductus arteriosus	Occasional [Orphanet]	228 / 7739
33	(HPO:0001646)	Abnormality of the aortic valve	Occasional [Orphanet]	55 / 7739
34	(HPO:0004383)	Hypoplastic left heart	Occasional [Orphanet]	29 / 7739
35	(HPO:0001252)	Muscular hypotonia	Very frequent [Orphanet]	990 / 7739
36	(HPO:0012758)	Neurodevelopmental delay	Very frequent [Orphanet]	949 / 7739
37	(HPO:0007370)	Aplasia/Hypoplasia of the corpus callosum	Occasional [Orphanet]	180 / 7739
38	(HPO:0011420)	Death	Occasional [Orphanet]	184 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol	Variation	Clinical significance	Reference

Additional Information:

Clinical Description OMIM

Okamoto et al. (1997) reported what they believed to be a new MCA/MR syndrome in a 2-year-old Japanese girl and an unrelated 15-month-old Japanese boy. Manifestations included congenital hydronephrosis, severe mental retardation, growth failure, generalized floppiness, and cleft ... Okamoto et al. (1997) reported what they believed to be a new MCA/MR syndrome in a 2-year-old Japanese girl and an unrelated 15-month-old Japanese boy. Manifestations included congenital hydronephrosis, severe mental retardation, growth failure, generalized floppiness, and cleft palate. The facies showed midface hypoplasia, hypertrichosis, long eyelashes, prominent eyes, epicanthus, low-set ears, long ear lobe, flat nasal bridge, short upturned nose, long philtrum, and webbed neck. The girl had mild aortic stenosis and regurgitation; ventricular septal defect, atrial septal defect, and patent ductus arteriosus (see 607411) had closed. The boy had endocardial cushion defect. In both patients, the karyotype was normal, the parents were nonconsanguineous and healthy, and sibs were normal. Wallerstein et al. (2005) reported a 6-month-old Chinese American boy with congenital hydronephrosis, cleft palate, severe hypotonia, congenital heart defect, developmental delay, and characteristic facial features with an open-mouthed appearance and full lower lip. The authors considered this to be the third reported case of Okamoto syndrome. The infant also had idiopathic splenomegaly and nonspecific MRI changes in the brain, which had not been reported in the first 2 cases. Markouri et al. (2008) reported a 2-year-old Greek female with Okamoto syndrome, born to healthy, nonconsanguineous parents. The child had multiple congenital anomalies including cleft palate, stenosis of the ureteropelvic junction with hydronephrosis, and cardiac anomalies, along with generalized hypotonia, severe developmental delay, and growth failure. The distinctive facial appearance included microcephaly, midface hypoplasia, prominent eyes, epicanthal folds, long eyelashes, synophrys, low-set ears with long earlobe, flat nasal bridge with short upturned nose, open mouth appearance, full lower lip, and downturned mouth. Unlike previously reported patients, she had severe anal stenosis. Taylor and Aftimos (2010) reported what they believed to be the fifth reported case of Okamoto syndrome. The female offspring of nonconsanguineous parents of mixed ethnic background had multiple congenital anomalies and characteristic facial features. Echocardiogram showed severe aortic stenosis with mildly hypoplastic left ventricle, mild mitral valve hypoplasia, and 2 small atrial septal defects. She was profoundly hypotonic and made little spontaneous movement. In the facies, she had mild supraorbital ridging and hypertrichosis of the forehead, temple, and cheeks, prominent eyes with large palpebral fissures and hypertelorism, depressed nasal bridge and infraorbital grooves, short upturned nose, tented upper lip, cleft palate, large and low-set ears, and redundancy of skin of the posterior neck. A brain MRI showed thinning of the corpus callosum and presence of germinolytic cysts within the lateral ventricles. She also had intestinal malrotation and uterine didelphyis, features not reported previously. She died at age 12 days after the withdrawal of supportive medical care.

Symptoms & Signs

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