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Acromegaloid phenotype with cutis verticis gyrata and corneal leukoma

MedGen UID:
231158
Concept ID:
C1321495
Congenital Abnormality
Synonyms: Acromegaloid changes, cutis verticis gyrata and corneal leukoma; Rosenthal-Kloepfer syndrome
SNOMED CT: Acromegaloid phenotype with cutis verticis gyrata and corneal leukoma (403766000); Rosenthal-Klöpfer syndrome (403766000)
 
Monarch Initiative: MONDO:0007050
OMIM®: 102100
Orphanet: ORPHA964

Clinical features

From HPO
Large hands
MedGen UID:
98097
Concept ID:
C0426870
Finding
Long foot
MedGen UID:
154365
Concept ID:
C0576225
Finding
Increased back to front length of the foot.
Tall stature
MedGen UID:
69137
Concept ID:
C0241240
Finding
A height above that which is expected according to age and gender norms.
Periostosis
MedGen UID:
473416
Concept ID:
C1409412
Disease or Syndrome
Abnormal deposition of periosteal bone.
Mandibular prognathia
MedGen UID:
98316
Concept ID:
C0399526
Finding
Abnormal prominence of the chin related to increased length of the mandible.
Cutis gyrata of scalp
MedGen UID:
78095
Concept ID:
C0263417
Disease or Syndrome
The presence of convoluted folds and furrows formed from thickened skin of the scalp, resembling cerebriform pattern. The scalp has convoluted and elevated folds, 1 to 2 cm in thickness. The convolutions generally cannot be flattened by traction.
Soft skin
MedGen UID:
336730
Concept ID:
C1844592
Finding
Subjective impression of increased softness upon palpation of the skin.
Abnormality of the eye
MedGen UID:
1370071
Concept ID:
C4316870
Anatomical Abnormality
Any abnormality of the eye, including location, spacing, and intraocular abnormalities.

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