Miscellaneous Syndromes

Rett Syndrome - Genetic Cause

X-linked: pathogenic variants in MECP2

• primarily females

Rett Syndrome - Female Symptoms

• normal psychomotor development (6-18m)

• developmental stagnation

• rapid regression followed by long term stability

• repetitive, stereotyped hand movements (wringing)

• gait ataxia/apraxia

• ASD, bruxism, apnea

Rett Syndrome - Male Symptoms

• traditionally defined as X-linked lethal

• pyramidal signs, parkinsonism, macroorchidism

• intellectual disability

Rubinstein-Taybi Syndrome - Genetic Cause

AR: biallelic pathogenic variants in CREBBP/EP300

Rubinstein-Taybi Syndrome - Symptoms

• craniofacial (downslanting palpebral, low hanging columella, high palate, grimacing smile)

• broad/angulated thumbs and halluces

• short stature

• moderate-severe ID

Coffin-Lowry Syndrome - Genetic Cause

X-linked: pathogenic variants in RPS6KA3

Coffin-Lowry Syndrome - Symptoms

primarily affects males

• DD/ID

• hypotonia, drop attacks

• progressive kyphoscoliosis, pectus

• hand findings (small, soft, fleshy)

Townes-Brocks Syndrome - Genetic Cause

AD: pathogenic variants in SALL1

Townes-Brocks Syndrome - Symptoms

1. imperforate anus/stenosis

2. dysplastic ears (overfolded ears, preauricular tags, SNHL)

3. thumb malformations

• PREAXIAL polydactyly, NO radial hypoplasia