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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): Gene(s) directly associated with this condition or phenotype.	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.

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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.

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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.

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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.

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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.

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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).

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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.

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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.

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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.

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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.

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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.

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Microcephaly

MedGen UID:: 1644158
•Concept ID:: C4551563
•: Finding

Head circumference below 2 standard deviations below the mean for age and gender.

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Prominent forehead

MedGen UID:: 373291
•Concept ID:: C1837260
•: Finding

Forward prominence of the entire forehead, due to protrusion of the frontal bone.

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Sparse scalp hair

MedGen UID:: 346499
•Concept ID:: C1857042
•: Finding

Decreased number of hairs per unit area of skin of the scalp.

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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.

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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.

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Show all Hide all

Abnormality of head or neck
Abnormality of limbs
Abnormality of the cardiovascular system
- Muscular ventricular septal defect
Abnormality of the genitourinary system
- Hydrocele testis
Abnormality of the musculoskeletal system
- Macrocephaly
- Microcephaly
Abnormality of the nervous system
Ear malformation
- Low-set ears
Growth abnormality
- Short stature

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVDevelopmental delay with short stature, dysmorphic facial features, and sparse hair
- Developmental delay with short stature, dysmorphic facial features, and sparse hair 1
- CROGVDevelopmental delay with short stature, dysmorphic facial features, and sparse hair 2

Dysostosis with predominant craniofacial involvement
- Developmental delay with short stature, dysmorphic facial features, and sparse hair
  - Developmental delay with short stature, dysmorphic facial features, and sparse hair 2

Recent clinical studies

Etiology

Expanding the SHOC2 mutation associated phenotype of Noonan syndrome with loose anagen hair: structural brain anomalies and myelofibrosis.

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: 23918763 Free PMC Article

Neurologic and gastrointestinal dysfunction in cardio-facio-cutaneous syndrome: identification of a severe phenotype.

Grebe TA, Clericuzio C
Am J Med Genet 2000 Nov 13;95(2):135-43. PMID: 11078563

See all (2)

Diagnosis

Novel variants in TNRC6B cause global developmental delay with speech and behavioral abnormalities, short stature, low body weight, café-au-lait spots, and metabolic abnormality.

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: 38404251 Free PMC Article

Co-Occurring Thrombotic Thrombocytopenic Purpura and Autoimmune Hemolytic Anemia in a Child Carrying the Pathogenic SHOC2 c.4A>G (p.Ser2Gly) Variant.

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: 38019730 Free PMC Article

Expanding the SHOC2 mutation associated phenotype of Noonan syndrome with loose anagen hair: structural brain anomalies and myelofibrosis.

Neurologic and gastrointestinal dysfunction in cardio-facio-cutaneous syndrome: identification of a severe phenotype.

Grebe TA, Clericuzio C
Am J Med Genet 2000 Nov 13;95(2):135-43. PMID: 11078563

See all (4)