Microcephaly

~90%

Typically, prenatal onset (60% present at birth)

Brain malformation

70%-75%

Brain imaging was not performed in all individuals.

Growth deficiency

80%-90%

40%-50% are small for gestational age.

Feeding difficulties

~90%

—

Distinct facial features

80%-90%

~90% have blepharophimosis/ptosis.

Ocular abnormalities

80%-90%

—

Hearing impairment

60%

—

Respiratory difficulties

~50%-60%

—

Ectodermal anomalies

35%-45%

Sparse hair 20%-45%; nail dysplasia ~15%

Cardiac involvement

~30%

Congenital malformations obstructive hypertrophy

Skeletal abnormalities

~20%

—

Low serum cholesterol

~50%

Total, HDL, /or LDL; Postnatal microcephaly is frequently present and more than 60% of affected children have prenatal microcephaly or a small occipitofrontal circumference (OFC) at birth (10th centile), which in most individuals persists postnatally .

Smith-Lemli-Opitz syndrome

AR

Growth restriction; microcephaly; moderate-to-severe ID; cleft palate; cardiac defects

Characteristic facial features (narrow forehead, epicanthal folds, ptosis, short nose w/anteverted nares, short mandible w/preservation of jaw width, nevus simplex over the nasal root that extends onto the glabella); underdeveloped external genitalia in males; 2-3 toe syndactyly

KAT6B

Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome (See KAT6B Disorders.)

AD1

Heart defects; hearing loss; optic atrophy; cleft palate; dental anomalies incl small pointed teeth

counseling

By genetics professionals1

To inform affected persons families re nature, MOI, implications of KOS in order to facilitate medical personal decision making Family support resources

Treatment of Manifestations in Individuals with Kaufman Oculocerebrofacial Syndrome Manifestation/Concern

Treatment

Considerations/Other Developmental delay /

Intellectual disability

See .

—

Epilepsy

Standardized treatment w/ASM by experienced neurologist

Many ASMs may be effective; none has been demonstrated effective specifically for KOS.; Education of parents/caregivers1 Feeding issues / poor

weight gain

Feeding therapy; gastrostomy tube placement may be required for persistent feeding issues.

Low threshold for clinical feeding eval /or radiographic swallowing study if clinical signs or symptoms of dysphagia Ophthalmologic

involvement

Treatment per ophthalmologist

Cataract ptosis surgery if indicated; Treatment of refractive errors /or strabismus Low vision services

Hearing impairment

Hearing aids or cochlear implant if needed

Community hearing services through early intervention or school district

Respiratory problems

Multidisciplinary team of pulmonologist, ENT specialist, infectious diseases specialist, intensive care specialist

Tracheostomy placement if needed, laryngeal reconstruction, mandibular advancement, mechanical ventilation support if needed, mechanical aids for obstructive sleep apnea.; Aggressive treatment of respiratory infections to prevent deterioration of respiratory function

Cardiac anomalies

Treatment per cardiologist

—

Genital anomalies

Orchidopexy in males w/undescended testes

—

Renal anomalies

Treatment of vesicoureteral reflux if indicated

Skeletal

Endocrine

Thyroid hormone replacement as needed

—

Cleft palate

Surgical repair if present

ASM = anti-seizure medication; KOS = Kaufman oculocerebrofacial syndrome; PT = physical therapy Developmental Delay / Intellectual Disability Management...