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Developmental delay with short stature, dysmorphic facial features, and sparse hair 2(DEDSSH2)

MedGen UID:
1823996
Concept ID:
C5774223
Disease or Syndrome
Synonyms: DEDSSH2; DIPHTHAMIDE DEFICIENCY SYNDROME 2
 
Gene (location): DPH2 (1p34.1)
 
Monarch Initiative: MONDO:0100217
OMIM®: 620062

Definition

Developmental delay with short stature, dysmorphic facial features, and sparse hair-2 (DEDSSH2) is an autosomal recessive syndromic disorder characterized by the constellation of these features apparent from infancy. Affected individuals may have other abnormalities, including congenital cardiac defects and distal skeletal anomalies (Hawer et al., 2020). For a discussion of genetic heterogeneity of DEDSSH2, see DEDSSH1 (616901). [from OMIM]

Clinical features

From HPO
Hydrocele testis
MedGen UID:
318568
Concept ID:
C1720771
Congenital Abnormality
Accumulation of clear fluid in the between the layers of membrane (tunica vaginalis) surrounding the testis.
Brachydactyly
MedGen UID:
67454
Concept ID:
C0221357
Congenital Abnormality
Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.
Single transverse palmar crease
MedGen UID:
96108
Concept ID:
C0424731
Finding
The distal and proximal transverse palmar creases are merged into a single transverse palmar crease.
Thumbs, congenital Clasped
MedGen UID:
98140
Concept ID:
C0431886
Congenital Abnormality
In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger.
Muscular ventricular septal defect
MedGen UID:
473253
Concept ID:
C0685707
Congenital Abnormality
The trabecular septum is the largest part of the interventricular septum. It extends from the membranous septum to the apex and superiorly to the infundibular septum. A defect in the trabecular septum is called muscular VSD if the defect is completely rimmed by muscle.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
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.
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.
Delayed gross motor development
MedGen UID:
332508
Concept ID:
C1837658
Finding
A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling.
Delayed fine motor development
MedGen UID:
869257
Concept ID:
C4023681
Finding
A type of motor delay characterized by a delay in acquiring the ability to control the fingers and hands.
Macrocephaly
MedGen UID:
745757
Concept ID:
C2243051
Finding
Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Prominent forehead
MedGen UID:
373291
Concept ID:
C1837260
Finding
Forward prominence of the entire forehead, due to protrusion of the frontal bone.
Sparse scalp hair
MedGen UID:
346499
Concept ID:
C1857042
Finding
Decreased number of hairs per unit area of skin of the scalp.
High anterior hairline
MedGen UID:
477667
Concept ID:
C3276036
Finding
Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD above the mean. Alternatively, an apparently increased distance between the hairline and the glabella.
Notched primary central incisor
MedGen UID:
892302
Concept ID:
C4022912
Anatomical Abnormality
The presence of a V-shaped indentation (notch) in the primary central incisor.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Gripp KW, Zand DJ, Demmer L, Anderson CE, Dobyns WB, Zackai EH, Denenberg E, Jenny K, Stabley DL, Sol-Church K
Am J Med Genet A 2013 Oct;161A(10):2420-30. Epub 2013 Aug 5 doi: 10.1002/ajmg.a.36098. PMID: 23918763Free PMC Article
Grebe TA, Clericuzio C
Am J Med Genet 2000 Nov 13;95(2):135-43. PMID: 11078563

Diagnosis

Yang Q, Ou S, Zhou X, Yi S, Lin L, Yi S, Zhang S, Qin Z, Luo J
Mol Genet Genomic Med 2024 Feb;12(2):e2408. doi: 10.1002/mgg3.2408. PMID: 38404251Free PMC Article
Liu L, Hu C, Chen Z, Zhu S, Zhu L
Am J Case Rep 2023 Nov 29;24:e942377. doi: 10.12659/AJCR.942377. PMID: 38019730Free PMC Article
Gripp KW, Zand DJ, Demmer L, Anderson CE, Dobyns WB, Zackai EH, Denenberg E, Jenny K, Stabley DL, Sol-Church K
Am J Med Genet A 2013 Oct;161A(10):2420-30. Epub 2013 Aug 5 doi: 10.1002/ajmg.a.36098. PMID: 23918763Free PMC Article
Grebe TA, Clericuzio C
Am J Med Genet 2000 Nov 13;95(2):135-43. PMID: 11078563

Prognosis

Gripp KW, Zand DJ, Demmer L, Anderson CE, Dobyns WB, Zackai EH, Denenberg E, Jenny K, Stabley DL, Sol-Church K
Am J Med Genet A 2013 Oct;161A(10):2420-30. Epub 2013 Aug 5 doi: 10.1002/ajmg.a.36098. PMID: 23918763Free PMC Article

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