Table 3.

Disorders to Consider in the Differential Diagnosis of SATB2-Associated Syndrome (SAS)

DisorderGeneMOIDD / ID &
Speech Delay		Craniofacial Dysmorphism / AnomaliesDental AnomaliesBehavioral FindingsSkeletal/Other
SATB2-associated syndrome (the subject of this GeneReview) SATB2 ADSome degree of ID in all known patients; severe DD/ID w/absent speech in ~50%At least minor facial dysmorphic features in most published individuals. 1
Craniofacial anomalies incl cleft palate, high-arched palate		Most common finding: abnormal shape or size of upper central incisors.
Other findings (variably seen): crowding, hypodontia, diastema, delayed primary dentition		Jovial or friendly personality, autistic tendencies, agitation or aggressive outbursts, hyperactivity, sleeping difficultiesPectus deformities, kyphosis/lordosis, scoliosis, osteopenia
Angelman syndrome See footnote 2.See footnote 2.Severe DD or ID, severe speech impairmentTypically not assoc w/anomalies as seen in SASTypically not assoc w/findings seen in SASUnique behavior w/inappropriate happy demeanor incl frequent laughing, smiling, excitabilityTypically not assoc w/anomalies seen in SAS
KBG syndrome ANKRD11 ADDD, IDFacial dysmorphic features incl triangular face, low anterior & posterior hairlines, bushy eyebrows, large prominent ears, anteverted nostrils w/hypoplastic alae nasi.
Palatal anomalies not common		Macrodontia of upper central incisorsASD, ADHD, anxiety, temper tantrums, compulsive & aggressive behaviorsBone age often delayed; short stature prevalent; hand anomalies

AD = autosomal dominant; ADHD = attention deficit/hyperactivity disorder; AR = autosomal recessive; ASD = autism spectrum disorder; DD = developmental delay; ID = intellectual disability; MOI = mode of inheritance

1.

Consistent features associated with larger 2q33.1 deletions include: prominent forehead or high anterior hairline, thin vermilion of the upper lip, low-set ears, long face. Consistent features associated with pathogenic missense, nonsense, and frameshift variants include: long and flat philtrum and thin vermilion of the upper lip [Zarate & Fish 2017; Author, personal observation].

2.

Angelman syndrome is caused by disruption of maternally imprinted UBE3A located within the 15q11.2-q13 Angelman syndrome/Prader-Willi syndrome (AS/PWS) region. The risk to sibs of a proband depends on the genetic mechanism leading to the loss of UBE3A function.

From: SATB2-Associated Syndrome

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