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Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome

MedGen UID:
355803
Concept ID:
C1866802
Disease or Syndrome
Synonym: Speech development, delayed, with facial asymmetry, strabismus, and transverse earlobe crease
 
Monarch Initiative: MONDO:0008445
OMIM®: 182875
Orphanet: ORPHA3038

Definition

This syndrome is extremely rare and is characterized by delayed speech development, mild facial asymmetry, strabismus and transverse ear lobe creases. [from ORDO]

Clinical features

From HPO
Low-set ears
MedGen UID:
65980
Concept ID:
C0239234
Congenital Abnormality
Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
Anterior creases of earlobe
MedGen UID:
343677
Concept ID:
C1851897
Finding
Sharply demarcated, typically linear and approximately horizontal, indentations in the outer surface of the ear lobe.
Delayed speech and language development
MedGen UID:
105318
Concept ID:
C0454644
Finding
A degree of language development that is significantly below the norm for a child of a specified age.
Specific learning disability
MedGen UID:
871302
Concept ID:
C4025790
Mental or Behavioral Dysfunction
Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.
Facial asymmetry
MedGen UID:
266298
Concept ID:
C1306710
Finding
An abnormal difference between the left and right sides of the face.
Long philtrum
MedGen UID:
351278
Concept ID:
C1865014
Finding
Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.
Unilateral narrow palpebral fissure
MedGen UID:
356621
Concept ID:
C1866805
Finding
A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures on one side only.
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.
Unilateral ptosis
MedGen UID:
401085
Concept ID:
C1866806
Finding
A unilateral form of ptosis.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDelayed speech-facial asymmetry-strabismus-ear lobe creases syndrome
Follow this link to review classifications for Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome in Orphanet.

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