U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from PMC

Items: 4

1.

Neural tube defect

A neural tube defect arises when the neural tube, the embryonic precursor of the brain and spinal cord, fails to close during neurulation. The cranial region (anencephaly) or the low spine (open spina bifida; myelomeningocele) are most commonly affected although, in the severe NTD craniorachischisis, almost the entire neural tube remains open, from midbrain to low spine. [from HPO]

MedGen UID:
18009
Concept ID:
C0027794
Congenital Abnormality
2.

Diastematomyelia

A rare, neural tube defect characterized by localized longitudinal division of the spinal cord with an interposed osseous, cartilaginous or fibrous septum and double dural sac, typically occurring at the thoracic or lumbar level. Local vertebral segmental defects, syringomyelia, meningocele and intraspinal tumors may be associated. Variable clinical presentation includes pain, scoliosis, asymmetry and weakness of the lower limbs, neurological deficits, sphincter dysfunction, and various cutaneous abnormalities overlying the spine, such as hypertrichosis, dimple, hemangioma, subcutaneous mass or pigmented nevus. [from ORDO]

MedGen UID:
3801
Concept ID:
C0011999
Congenital Abnormality
3.

Abnormal neural tube morphology

Any structural anomaly of the hollow epithelial tube found on the dorsal side of the vertebrate embryo that develops into the central nervous system (i.e. brain and spinal cord). [from HPO]

MedGen UID:
1620065
Concept ID:
C4531030
Anatomical Abnormality
4.

Abnormality of skin physiology

Any abnormality of the physiological function of the skin. [from HPO]

MedGen UID:
869109
Concept ID:
C4023527
Pathologic Function
Format

Send to:

Choose Destination

Supplemental Content

Find related data

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...