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Heyn-Sproul-Jackson syndrome(HESJAS)

MedGen UID:
1684743
Concept ID:
C5231475
Disease or Syndrome
Synonym: MICROCEPHALY, SHORT STATURE, AND IMPAIRED INTELLECTUAL DEVELOPMENT
 
Gene (location): DNMT3A (2p23.3)
 
Monarch Initiative: MONDO:0032882
OMIM®: 618724

Definition

Heyn-Sproul-Jackson syndrome (HESJAS) is characterized by microcephalic dwarfism and global developmental delay (Heyn et al., 2019). [from OMIM]

Clinical features

From HPO
Short phalanx of finger
MedGen UID:
163753
Concept ID:
C0877165
Finding
Short (hypoplastic) phalanx of finger, affecting one or more phalanges.
Short metacarpal
MedGen UID:
323064
Concept ID:
C1837084
Anatomical Abnormality
Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.
Broad metacarpals
MedGen UID:
330796
Concept ID:
C1842229
Finding
Abnormally broad metacarpal bones.
Broad phalanx
MedGen UID:
340809
Concept ID:
C1855185
Finding
Increased side-to-side width of one or more phalanges of the fingers or toes.
Severe short stature
MedGen UID:
3931
Concept ID:
C0013336
Disease or Syndrome
A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.
Fetal growth restriction
MedGen UID:
4693
Concept ID:
C0015934
Pathologic Function
An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.
Decreased body weight
MedGen UID:
1806755
Concept ID:
C5574742
Finding
Abnormally low body weight.
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.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
11 pairs of ribs
MedGen UID:
326950
Concept ID:
C1839731
Finding
Presence of only 11 pairs of ribs.
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Epicanthus
MedGen UID:
151862
Concept ID:
C0678230
Congenital Abnormality
Epicanthus is a condition in which a fold of skin stretches from the upper to the lower eyelid, partially covering the inner canthus. Usher (1935) noted that epicanthus is a normal finding in the fetus of all races. Epicanthus also occurs in association with hereditary ptosis (110100).
Broad forehead
MedGen UID:
338610
Concept ID:
C1849089
Finding
Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead.
Sparse hair
MedGen UID:
1790211
Concept ID:
C5551005
Finding
Reduced density of hairs.
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.

Recent clinical studies

Diagnosis

Ghaoui R, Ha TT, Kerkhof J, McConkey H, Gao S, Babic M, King R, Ravenscroft G, Koszyca B, Otto S, Laing NG, Scott H, Sadikovic B, Kassahn KS
Neuromuscul Disord 2023 Jun;33(6):484-489. Epub 2023 Apr 4 doi: 10.1016/j.nmd.2023.04.002. PMID: 37209493

Prognosis

Futagawa H, Ito S, Kosaki K, Yoshihashi H
Congenit Anom (Kyoto) 2023 Sep;63(5):174-175. Epub 2023 Jul 30 doi: 10.1111/cga.12532. PMID: 37517811

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