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Items: 5

1.

Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis

SOFT syndrome is characterized by severely short long bones, peculiar facies associated with paucity of hair, and nail anomalies. Growth retardation is evident on prenatal ultrasound as early as the second trimester of pregnancy, and affected individuals reach a final stature consistent with a height age of 6 years to 8 years. Relative macrocephaly is present during early childhood but head circumference is markedly low by adulthood. Psychomotor development is normal. Facial dysmorphism includes a long, triangular face with prominent nose and small ears, and affected individuals have an unusual high-pitched voice. Clinodactyly, brachydactyly, and hypoplastic distal phalanges and fingernails are present in association with postpubertal sparse and short hair. Typical skeletal findings include short and thick long bones with mild irregular metaphyseal changes, short femoral necks, and hypoplastic pelvis and sacrum. All long bones of the hand are short, with major delay of carpal ossification and cone-shaped epiphyses. Vertebral body ossification is also delayed (summary by Sarig et al., 2012). [from OMIM]

MedGen UID:
762199
Concept ID:
C3542022
Disease or Syndrome
2.

Schwannoma

A benign nerve sheath tumor composed of Schwann cells. [from HPO]

MedGen UID:
451406
Concept ID:
CN116907
Finding
3.

Schwannoma

a benign tumor that originates from the nervous system [from CHV]

MedGen UID:
45053
Concept ID:
C0027809
Neoplastic Process
4.

Plexiform neurofibroma

A neurofibroma in which Schwann cells proliferate inside the nerve sheath, producing an irregularly thickened, distorted, tortuous structure. [from HPO]

MedGen UID:
506304
Concept ID:
CN008592
Finding
5.

Flat philtrum

Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border. [from HPO]

MedGen UID:
222980
Concept ID:
C1142533
Anatomical Abnormality
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