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Megalocornea-intellectual deficit syndrome

General Information (adopted from Orphanet):

Synonyms, Signs:	NEUHAUSER SYNDROME Neuhäuser syndrome mmr syndrome
Number of Symptoms	77
OrphanetNr:	2479
OMIM Id:	249310
ICD-10:	Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence:	No data available.
Inheritance:	Autosomal recessive inheritance [Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases:

Rare disease with glaucoma as a major feature
-Rare eye disease
-Rare genetic disease
Rare genetic intellectual deficit with developmental anomaly
-Rare genetic disease
Rare intellectual deficit with developmental anomaly
-Rare neurologic disease
Syndromic developmental defect of the eye
-Rare developmental defect during embryogenesis
-Rare eye disease
-Rare genetic disease

Symptom Information: Sort by abundance

	Symptom Information	Symptom	Abundance	DB Freq
1	(HPO:0009891)	Underdeveloped supraorbital ridges	Occasional [Orphanet]	36 / 7739
2	(HPO:0000322)	Short philtrum	Occasional [Orphanet]	130 / 7739
3	(HPO:0000311)	Round face		104 / 7739
4	(HPO:0000347)	Micrognathia		426 / 7739
5	(HPO:0000294)	Low anterior hairline		52 / 7739
6	(HPO:0000431)	Wide nasal bridge	Frequent [Orphanet]	290 / 7739
7	(HPO:0000218)	High palate		356 / 7739
8	(HPO:0002705)	High, narrow palate	Frequent [Orphanet]	308 / 7739
9	(HPO:0000494)	Downslanted palpebral fissures	Frequent [Orphanet]	328 / 7739
10	(HPO:0000343)	Long philtrum		262 / 7739
11	(HPO:0000277)	Abnormality of the mandible	Very frequent [Orphanet]	394 / 7739
12	(HPO:0000194)	Open mouth	Frequent [Orphanet]	70 / 7739
13	(HPO:0000286)	Epicanthus	Frequent [Orphanet]	371 / 7739
14	(HPO:0000252)	Microcephaly	Occasional [Orphanet]	832 / 7739
15	(HPO:0000232)	Everted lower lip vermilion	Occasional [Orphanet]	90 / 7739
16	(HPO:0000520)	Proptosis		192 / 7739
17	(HPO:0000316)	Hypertelorism	Frequent [Orphanet]	644 / 7739
18	(HPO:0005280)	Depressed nasal bridge		381 / 7739
19	(HPO:0000193)	Bifid uvula		66 / 7739
20	(HPO:0000256)	Macrocephaly	Occasional [Orphanet]	298 / 7739
21	(HPO:0002007)	Frontal bossing	Very frequent [Orphanet]	366 / 7739
22	(HPO:0000483)	Astigmatism	Occasional [Orphanet]	67 / 7739
23	(HPO:0000593)	Abnormality of the anterior chamber	Frequent [Orphanet]	15 / 7739
24	(HPO:0008053)	Aplasia/Hypoplasia of the iris	Frequent [Orphanet]	38 / 7739
25	(HPO:0007676)	Hypoplasia of the iris		22 / 7739
26	(HPO:0100693)	Iridodonesis		3 / 7739
27	(HPO:0000639)	Nystagmus	Occasional [Orphanet]	555 / 7739
28	(HPO:0000485)	Megalocornea	Very frequent [Orphanet]	26 / 7739
29	(HPO:0000545)	Myopia	Frequent [Orphanet]	286 / 7739
30	(HPO:0000407)	Sensorineural hearing impairment	Occasional [Orphanet]	524 / 7739
31	(HPO:0002265)	Large fleshy ears		5 / 7739
32	(HPO:0000378)	Cupped ear		34 / 7739
33	(HPO:0000411)	Protruding ear	Occasional [Orphanet]	140 / 7739
34	(HPO:0002015)	Dysphagia		301 / 7739
35	(HPO:0002167)	Neurological speech impairment	Very frequent [Orphanet]	308 / 7739
36	(HPO:0002066)	Gait ataxia	Occasional [Orphanet]	327 / 7739
37	(HPO:0001251)	Ataxia		413 / 7739
38	(HPO:0002353)	EEG abnormality	Occasional [Orphanet]	188 / 7739
39	(HPO:0002370)	Poor coordination		15 / 7739
40	(HPO:0001250)	Seizures	Frequent [Orphanet]	1245 / 7739
41	(HPO:0001249)	Intellectual disability		1089 / 7739
42	(HPO:0000733)	Stereotypy	Frequent [Orphanet]	58 / 7739
43	(HPO:0000832)	Primary hypothyroidism		4 / 7739
44	(HPO:0000821)	Hypothyroidism	Occasional [Orphanet]	141 / 7739
45	(HPO:0001761)	Pes cavus		225 / 7739
46	(HPO:0001166)	Arachnodactyly		62 / 7739
47	(HPO:0001382)	Joint hypermobility	Frequent [Orphanet]	231 / 7739
48	(HPO:0004684)	Talipes valgus	Frequent [Orphanet]	28 / 7739
49	(HPO:0000938)	Osteopenia	rare [HPO:skoehler]	138 / 7739
50	(HPO:0001765)	Hammertoe		63 / 7739
51	(HPO:0002857)	Genu valgum		144 / 7739
52	(HPO:0001763)	Pes planus		176 / 7739
53	(HPO:0001838)	Rocker bottom foot		85 / 7739
54	(HPO:0002808)	Kyphosis	Frequent [Orphanet]	289 / 7739
55	(HPO:0001182)	Tapered finger	Frequent [Orphanet]	93 / 7739
56	(HPO:0004349)	Reduced bone mineral density	Occasional [Orphanet]	165 / 7739
57	(HPO:0002970)	Genu varum	Frequent [Orphanet]	60 / 7739
58	(HPO:0002816)	Genu recurvatum		30 / 7739
59	(HPO:0001822)	Hallux valgus		70 / 7739
60	(HPO:0002650)	Scoliosis	Frequent [Orphanet]	705 / 7739
61	(HPO:0004322)	Short stature	Frequent [Orphanet]	1232 / 7739
62	(HPO:0003124)	Hypercholesterolemia	rare [HPO:skoehler]	53 / 7739
63	(HPO:0003119)	Abnormality of lipid metabolism	Occasional [Orphanet]	60 / 7739
64	(HPO:0010978)	Abnormality of immune system physiology	Very frequent [Orphanet]	148 / 7739
65	(HPO:0001252)	Muscular hypotonia	Very frequent [Orphanet]	990 / 7739
66	(HPO:0010547)	Muscle flaccidity		466 / 7739
67	(HPO:0008947)	Infantile muscular hypotonia		482 / 7739
68	(HPO:0001324)	Muscle weakness		859 / 7739
69	(OMIM)	Broad nasal root/bridge		1 / 7739
70	(OMIM)	Normal intraocular pressure		2 / 7739
71	(OMIM)	Cerebral cortical atrophy, diffuse		1 / 7739
72	(OMIM)	Frontal bossing, mild		2 / 7739
73	(HPO:0012758)	Neurodevelopmental delay	Very frequent [Orphanet]	949 / 7739
74	(OMIM)	Delayed myelination on brain MRI (reported in 1 patient)		1 / 7739
75	(OMIM)	Abnormal auricles		4 / 7739
76	(HPO:0002188)	Delayed CNS myelination		16 / 7739
77	(HPO:0000007)	Autosomal recessive inheritance		2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol	Variation	Clinical significance	Reference

Additional Information:

Clinical Description OMIM

Neuhauser et al. (1975) reported a family in which 3 sibs were affected with megalocornea, iris hypoplasia, severe mental retardation, hypotonia, seizures, and minor facial anomalies, including frontal bossing, antimongoloid slant of the eyes, epicanthal folds, and broad ... Neuhauser et al. (1975) reported a family in which 3 sibs were affected with megalocornea, iris hypoplasia, severe mental retardation, hypotonia, seizures, and minor facial anomalies, including frontal bossing, antimongoloid slant of the eyes, epicanthal folds, and broad nasal base. Four sporadic cases were also reported. Neuhauser et al. (1975) suggested autosomal recessive inheritance. Schmidt and Rapin (1981) reported 2 unrelated patients with megalocornea associated with mental retardation. Both patients had hypotonia and facial features similar to those reported by Neuhauser et al. (1975). Del Giudice et al. (1987) reported 2 unrelated cases, one of which occurred in a girl whose parents were third cousins. Her parents noticed hypotonia, slow psychomotor development, and prominent eyes during her first months of life. Gronbech-Jensen (1989) described a case with short stature and mild malformation of the left auricle. Kimura et al. (1991) described a patient with Neuhauser syndrome who also had primary hypothyroidism and delayed myelination observed on brain magnetic resonance imaging (MRI). Santolaya et al. (1992) reported an affected patient. Hypotonia was noted at birth, and developmental delay was apparent soon after. Facial features included a round face, low frontal hairline, mild frontal bossing, broad nasal bridge, large corneas, mild hypertelorism, long upper lip, high palate, and small chin. She also had poor coordination. Santolaya et al. (1992) concluded that hypotonia is a major feature of this syndrome. Antinolo et al. (1994) reported an isolated case of megalocornea, mental retardation, and hypotonia. Sarkozy et al. (2002) reported a child with megalocornea-mental retardation syndrome who had also had primary hypothyroidism, osteopenia, and hypercholesterolemia. They suggested that the latter 3 features, previously described in only one case each, may be distinct features of MMR. Derbent et al. (2004) reported a male child with features of Neuhauser syndrome, including mental and motor retardation, megalocornea, and generalized hypotonia. He had characteristic facies with frontal bossing, hypertelorism, depressed and broad nasal root, long philtrum, micrognathia, and high-arched palate. Other features included bifid uvula and cerebral cortical atrophy.

Symptoms & Signs

	Field	Query
	Disease
	Symptom