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Lateral meningocele syndrome

General Information (adopted from Orphanet):

Synonyms, Signs:	LMS lehman syndrome
Number of Symptoms	64
OrphanetNr:	2789
OMIM Id:	130720
ICD-10:	Q87.5
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases:

Malformation of the neurenteric canal, spinal cord and column
-Rare developmental defect during embryogenesis
-Rare genetic disease
-Rare neurologic disease
Primary bone dysplasia with increased bone density
-Rare bone disease
-Rare developmental defect during embryogenesis
-Rare genetic disease

Symptom Information: Sort by abundance

	Symptom Information	Symptom	Abundance	DB Freq
1	(HPO:0000035)	Abnormality of the testis	Occasional [Orphanet]	296 / 7739
2	(HPO:0002705)	High, narrow palate	Very frequent [Orphanet]	308 / 7739
3	(HPO:0000316)	Hypertelorism	Occasional [Orphanet]	644 / 7739
4	(HPO:0000343)	Long philtrum		262 / 7739
5	(HPO:0004437)	Cranial hyperostosis	Frequent [Orphanet]	55 / 7739
6	(HPO:0000347)	Micrognathia		426 / 7739
7	(HPO:0000272)	Malar flattening	Very frequent [Orphanet]	277 / 7739
8	(HPO:0002691)	Platybasia		10 / 7739
9	(HPO:0000174)	Abnormality of the palate	Occasional [Orphanet]	298 / 7739
10	(HPO:0005487)	Prominent metopic ridge	Frequent [Orphanet]	28 / 7739
11	(HPO:0000277)	Abnormality of the mandible	Very frequent [Orphanet]	394 / 7739
12	(HPO:0000470)	Short neck	Frequent [Orphanet]	345 / 7739
13	(HPO:0002162)	Low posterior hairline	Frequent [Orphanet]	88 / 7739
14	(HPO:0000494)	Downslanted palpebral fissures	Very frequent [Orphanet]	328 / 7739
15	(HPO:0003194)	Short nasal bridge		2 / 7739
16	(HPO:0000275)	Narrow face	Very frequent [Orphanet]	76 / 7739
17	(HPO:0002694)	Sclerosis of skull base		10 / 7739
18	(HPO:0000288)	Abnormality of the philtrum	Frequent [Orphanet]	54 / 7739
19	(HPO:0000319)	Smooth philtrum		72 / 7739
20	(HPO:0000268)	Dolichocephaly	Very frequent [Orphanet]	144 / 7739
21	(HPO:0002645)	Wormian bones	Very frequent [Orphanet]	65 / 7739
22	(HPO:0000218)	High palate		356 / 7739
23	(HPO:0000678)	Dental crowding		65 / 7739
24	(HPO:0000520)	Proptosis	Occasional [Orphanet]	192 / 7739
25	(HPO:0000164)	Abnormality of the teeth	Frequent [Orphanet]	291 / 7739
26	(HPO:0000286)	Epicanthus	Occasional [Orphanet]	371 / 7739
27	(HPO:0000508)	Ptosis	Very frequent [Orphanet]	459 / 7739
28	(HPO:0000612)	Iris coloboma	Occasional [Orphanet]	116 / 7739
29	(HPO:0000405)	Conductive hearing impairment	Very frequent [Orphanet]	164 / 7739
30	(HPO:0000357)	Abnormal location of ears	Very frequent [Orphanet]	328 / 7739
31	(HPO:0000369)	Low-set ears		372 / 7739
32	(HPO:0000372)	Abnormality of the auditory canal	Very frequent [Orphanet]	49 / 7739
33	(HPO:0000358)	Posteriorly rotated ears		163 / 7739
34	(HPO:0000407)	Sensorineural hearing impairment	Occasional [Orphanet]	524 / 7739
35	(HPO:0004452)	Abnormality of the middle ear ossicles	Frequent [Orphanet]	26 / 7739
36	(HPO:0003307)	Hyperlordosis	Occasional [Orphanet]	122 / 7739
37	(HPO:0004586)	Biconcave vertebral bodies		15 / 7739
38	(HPO:0002435)	Meningocele	Very frequent [Orphanet]	23 / 7739
39	(HPO:0002808)	Kyphosis	Occasional [Orphanet]	289 / 7739
40	(HPO:0002948)	Vertebral fusion		28 / 7739
41	(HPO:0000767)	Pectus excavatum	Frequent [Orphanet]	244 / 7739
42	(HPO:0001382)	Joint hypermobility	Frequent [Orphanet]	231 / 7739
43	(HPO:0001547)	Abnormality of the rib cage		25 / 7739
44	(HPO:0002650)	Scoliosis	Frequent [Orphanet]	705 / 7739
45	(HPO:0003312)	Abnormal form of the vertebral bodies	Frequent [Orphanet]	172 / 7739
46	(HPO:0004299)	Hernia of the abdominal wall	Frequent [Orphanet]	176 / 7739
47	(HPO:0000023)	Inguinal hernia		181 / 7739
48	(HPO:0001537)	Umbilical hernia	Frequent [Orphanet]	206 / 7739
49	(HPO:0004322)	Short stature	Frequent [Orphanet]	1232 / 7739
50	(HPO:0000951)	Abnormality of the skin		147 / 7739
51	(HPO:0001643)	Patent ductus arteriosus		228 / 7739
52	(HPO:0001629)	Ventricular septal defect	Occasional [Orphanet]	316 / 7739
53	(HPO:0001252)	Muscular hypotonia	Occasional [Orphanet]	990 / 7739
54	(HPO:0012758)	Neurodevelopmental delay	Occasional [Orphanet]	949 / 7739
55	(HPO:0007099)	Arnold-Chiari type I malformation		18 / 7739
56	(OMIM)	Keloid formation		1 / 7739
57	(HPO:0003396)	Syringomyelia	Occasional [Orphanet]	16 / 7739
58	(HPO:0100702)	Arachnoid cyst		15 / 7739
59	(HPO:0002308)	Arnold-Chiari malformation	Occasional [Orphanet]	42 / 7739
60	(HPO:0000006)	Autosomal dominant inheritance		2518 / 7739
61	(OMIM)	Long smooth philtrum		9 / 7739
62	(OMIM)	Meningoceles, multiple, lateral		1 / 7739
63	(OMIM)	Widening of the spinal canal		1 / 7739
64	(HPO:0100775)	Dural ectasia	Very frequent [Orphanet]	5 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol	Variation	Clinical significance	Reference

Additional Information:

Clinical Description OMIM

Lehman et al. (1977) reported a 14-year-old girl with generalized osteosclerosis, distinctive craniofacial features, and multiple thoracic and lateral meningoceles. She had downslanting palpebral fissures, high-arched palate, mandibular and facial bone hypoplasia, a large sella turcica and spacious ... Lehman et al. (1977) reported a 14-year-old girl with generalized osteosclerosis, distinctive craniofacial features, and multiple thoracic and lateral meningoceles. She had downslanting palpebral fissures, high-arched palate, mandibular and facial bone hypoplasia, a large sella turcica and spacious foramen magnum, platybasia, basilar impression, widened spinal cord, and scalloping of the posterior surfaces of the vertebral bodies. Radiographic studies suggested maldevelopment of the spinal cord, cerebellum, and cerebral cortex. Her asymptomatic mother showed similar craniofacial skeletal features. Katz et al. (1978) reported an isolated case. Merle et al. (1979) may have described the same disorder in 2 sisters, aged 6 and 9 years. They had short stature and facial dysmorphism similar to that reported by Lehman et al. (1977). Other features included enlarged sella turcica and enlargement of the optic foramina and internal auditory meati. The mother had a large sella. Merle et al. (1979) suggested a general dysplastic syndrome rather than a local disease. Philip et al. (1995) reported a 19-year-old boy with facial dysmorphism, skeletal anomalies, and multiple lateral meningoceles. He had increased bone density of the skull base and sutures. Intelligence was normal. Electron microscopy of skin showed nonspecific abnormalities suggesting a connective tissue disorder. The clinical features closely resembled those reported by Lehman et al. (1977). Gripp et al. (1997) described 1 female and 2 male patients with multiple lateral meningoceles. One patient had thickened calvaria, and 2 had prominent metopic sutures. Other shared features included wormian bones, malar hypoplasia, downslanting palpebral fissures, a high narrow palate, keloid formation, and cryptorchidism in males. One had a hypoplastic posterior arch of the atlas and an enlarged sella, as reported by Lehman et al. (1977). Chen et al. (2005) reported 3 additional cases of LMS, including an affected mother and daughter. The daughter presented at the age of 10 years for neurosurgery for increasing lower back pain, which was treated by L4-L5 and S1 laminectomy and excision of an extradural arachnoid cyst. Multiple abnormalities had been demonstrated by MRI, including a Chiari I malformation (CM1; 118420) and a large dorsal extradural arachnoid cyst expanding the canal and extending from the lower thoracic spine into the sacrum. Facies showed hypertelorism, mildly downslanting palpebral fissures, and ptosis. There was mild micrognathia and a high narrow palate. In the mother, bilateral flank masses and an umbilical hernia were noted at birth. She had had multiple surgeries to correct malformed auditory ossicles. At the age of 33 years she was found to have dural ectasia and multiple lateral meningoceles. At that time the mother's height was 143 cm (50th centile for a 10-year-old child). She had the appearance of hypertelorism, mildly downslanting palpebral fissures, ptosis, and micrognathia. All features were strikingly similar to those of the daughter. The affected male reported by Chen et al. (2005) had telecanthus and micrognathia, bilateral inguinal hernias, and multiple lateral meningoceles in the thoracic and lumbar regions. Chen et al. (2005) suggested that lateral meningocele syndrome may be a connective tissue disorder.

Symptoms & Signs

	Field	Query
	Disease
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