Mutations in NOTCH3 have identified in a Turkish family with Alzheimers disease. Adult Notch3 knock-out mice show incomplete neuronal maturation in the spinal dorsal horn. [wikivisually.com]

Hyperextensibility, hernias and scoliosis reflect a connective tissue abnormality, and aortic dilation, a high-pitched nasal voice, wormian bones and osteolysis may be present. [ncbi.nlm.nih.gov]

Additional variable features are connective tissue abnormalities, aortic dilation, a high-pitched nasal voice, wormian bones and osteolysis. [uniprot.org]

Patients may also have hyperextensibility, hernias, scoliosis and aortic dilation, a high-pitched nasal voice, wormian bones and osteolysis. [exeterlaboratory.com]

Other signs and symptoms that can occur in lateral meningocele syndrome include a high and nasal voice, hearing loss, abnormalities of the heart or the genitourinary system, poor feeding, difficulty swallowing (dysphagia), and backflow of stomach acids [elbiruniblogspotcom.blogspot.com]

Thepatient had failure to thrive, with normal OFC. He wasdescribed as having anomalies including epicanthalfolds, low-set, and posteriorly angulated ears, micro-gnathia, and a flat nose. [documents.tips]

Note that a feeding tube may be necessary if persistent feeding difficulties result in failure to thrive. Surveillance No surveillance guidelines for LMS have been published. [ncbi.nlm.nih.gov]

Facial features found in this syndrome include dolichocephaly hypertelorism ptosis microretrognathia high arched palate long flat philtrum low set earsNon facial features of this syndrome include hyperextensibility hypotonia lateral meningocelesThe lateral [en.wikipedia.org]

Symptoms - Lateral meningocele syndrome * Generalized osteosclerosis * Multiple thoracic meningoceles * Multiple lateral meningoeles * Downslanting eye slits * High arched palate * Underdeveloped jaw * Underdeveloped facial bones * Large sella turcica [checkorphan.org]

Dysmorphic features include dolichocephaly, hypertelorism, ptosis, microretrognathia, high-arched palate, long, flat philtrum, and low-set ears. [malacards.org]

Patient 2 at 8 years, showing marked thoracic kyphosis andexaggerated lumbar lordosis.Lateral Meningocele Syndrome 237clude proptosis, ptosis and downslanting palpebral fis-sures, maxillary hypoplasia, high arched palate, micro-gnathia, scoliosis, hypotonia [documents.tips]

[…] stomach in infants 476 Antral outlet obstruction of the stomach 477 Coarse mucosal folds or mucosal irregularities of the stomach 478 Pneumatosis or air in the gastric wall 479 Duodenal obstruction with or without its luminal distention 480 Duodenal ulcer [books.google.com]

Facial features found in this syndrome include dolichocephaly hypertelorism ptosis microretrognathia high arched palate long flat philtrum low set earsNon facial features of this syndrome include hyperextensibility hypotonia lateral meningocelesThe lateral [en.wikipedia.org]

Dysmorphic features include dolichocephaly, hypertelorism, ptosis, microretrognathia, high-arched palate, long, flat philtrum, and low-set ears. [malacards.org]

Showing of 59 80%-99% of people have these symptoms Atresia of the external auditory canal Absent ear canal 0000413 Conductive hearing impairment Conductive deafness Conductive hearing loss [ more ] 0000405 Dolichocephaly Long, narrow head Tall and narrow [rarediseases.info.nih.gov]

[…] body height Small stature [ more ] 0004322 Vertebral fusion Spinal fusion 0002948 Showing of 59 Last updated: 5/1/2019 If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. [rarediseases.info.nih.gov]

Dysmorphic features include dolichocephaly, hypertelorism, ptosis, microretrognathia, high-arched palate, long, flat philtrum, and low-set ears. [malacards.org]

Facial features of LMS include hypertelorism and telecanthus, high arched eyebrows, ptosis, midfacial hypoplasia, micrognathia, high and narrow palate, low-set ears and a hypotonic appearance. [ncbi.nlm.nih.gov]

Facial features include midface hypoplasia, downslanting palpebral fissures, hypertelorism, ptosis, low-set ears, malar hypoplasia, a high narrow palate, micrognatnia and cleft palate. read more [ctgt.net]

LMNS facial features include hypertelorism and telecanthus, high arched eyebrows, ptosis, mid-facial hypoplasia, micrognathia, high and narrow palate, low-set ears and a hypotonic appearance. [uniprot.org]

Showing of 59 80%-99% of people have these symptoms Atresia of the external auditory canal Absent ear canal 0000413 Conductive hearing impairment Conductive deafness Conductive hearing loss [ more ] 0000405 Dolichocephaly Long, narrow head Tall and narrow [rarediseases.info.nih.gov]

He was diagnosed with moderate bilateral conductive hearing impairment; hearing aids were prescribed. He has left amblyopia. Cardiac status has been stable. [ashg.org]

Delayed development of motor skills in infancy, such as sitting and crawling, often occurs in this disorder; intelligence is usually unaffected. [elbiruniblogspotcom.blogspot.com]

bone density in skull * Thickened calvaria * Flattened cheeks * Narrow palate * Wormian bones * Undescended testes * Loose joints * Reduced muscle tone * Developmental delay Causes - Lateral meningocele syndrome Not supplied. [checkorphan.org]

distention 484 Malabsorption patterns of the small bowel 486 Fixed stiff small bowel loops 487 Destruction of the small bowel mucosa 488 Deformation of the terminal ileum 489 Lesions mimikig regional enteritis 490 Abnormalities of the ileocecal valve [books.google.com]

stricture or narrowing 496 Segmental colonic narrowing in children 497 Toxic megacolon 498 Distention of the small andor large bowelnonobstructive paralytic ileus 499 Distended large bowel 500 Large bowel obstruction 502 Large retrorectal space 503 Large [books.google.com]