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Ichthyosis-cheek-eyebrow syndrome

MedGen UID:
326697
Concept ID:
C1840283
Disease or Syndrome
Synonyms: ICE syndrome; Sidransky Feinstein Goodman syndrome
SNOMED CT: Ichthyosis cheek eyebrow syndrome (716097001); Sidransky Feinstein Goodman syndrome (716097001); ICE (ichthyosis cheek eyebrow) syndrome (716097001)
 
Monarch Initiative: MONDO:0007811
OMIM®: 146720

Definition

Ichthyosis-cheek-eyebrow syndrome is characterized by ichthyosis, prominent full cheeks and sparse lateral eyebrows. It has been described in several individuals from four generations of one family. Transmission is autosomal dominant. [from MONDO]

Clinical features

From HPO
Pes planus
MedGen UID:
42034
Concept ID:
C0016202
Anatomical Abnormality
A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.
Kyphoscoliosis
MedGen UID:
154361
Concept ID:
C0575158
Anatomical Abnormality
An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.
Abnormal thorax morphology
MedGen UID:
867424
Concept ID:
C4021797
Anatomical Abnormality
Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs).
High palate
MedGen UID:
66814
Concept ID:
C0240635
Congenital Abnormality
Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
Sparse lateral eyebrow
MedGen UID:
387768
Concept ID:
C1857206
Finding
Decreased density/number and/or decreased diameter of lateral eyebrow hairs.
Full cheeks
MedGen UID:
355661
Concept ID:
C1866231
Finding
Increased prominence or roundness of soft tissues between zygomata and mandible.
Ichthyosis
MedGen UID:
7002
Concept ID:
C0020757
Disease or Syndrome
An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization.

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