Craniofacial Disorders

A neonate has trapezoidocephaly from craniosynostosis, severe midface retrusion with choanal atresia, and bilateral elbows fixed in flexion (radiohumeral synostosis). Female genital anomalies prompt steroid testing, which shows a profile of disordered steroidogenesis with elevated 21-deoxycortisol and pregnenolone.

A newborn has severe syndactyly of the hands and feet ("mitten hands") with bony fusion. The skull shows turribrachycephaly and there is midface hypoplasia with proptosis.

A girl has bilateral coronal craniosynostosis, hypertelorism, a bifid nasal tip, and facial asymmetry. Her father carries the same variant but has only mild hypertelorism, with no craniosynostosis and no other features.

A child has shallow orbits with proptosis (bulging eyes), midface hypoplasia, and a beaked nose. Skull imaging reveals multisuture craniosynostosis. Hearing is normal and hands are normal.

A newborn has broad thumbs and great toes that deviate medially. There is craniosynostosis and midface hypoplasia. The phenotype is milder than Apert syndrome.

A child has unilateral coronal craniosynostosis (anterior plagiocephaly), low-set frontal hairline, ptosis, and a broad great toe. Hands show partial cutaneous syndactyly between the second and third fingers. Father has a similar facial gestalt and was diagnosed as an adult.

A fetus is noted to have unilateral cleft lip on prenatal ultrasound. Amniocentesis reveals a normal microarray. After birth, no other anomalies are identified and the cleft is considered isolated.

A girl has a lobulated tongue with small tongue nodules, a cleft of the soft palate, and widely spaced eyes with a broad nasal root. Her hands show clinodactyly of the fifth finger. Renal ultrasound in her 20s reveals bilateral polycystic kidneys. There is no history of an affected father, and no affected males in the family.

A newborn has severe micrognathia causing the tongue to fall back (glossoptosis), resulting in upper airway obstruction. A U-shaped cleft palate is also present.

A newborn has cleft palate, paramedian lower lip pits, webbing behind both knees, and a pyramidal fold of skin over each great-toe nail. A parent has only lip pits. The parent sits at the Van der Woude end of the same *IRF6* spectrum; the child has popliteal pterygium syndrome.

A newborn has severe micrognathia requiring airway management, downslanting palpebral fissures, and absent external ears (microtia). Hearing aids are fitted for bilateral conductive hearing loss.

A child with cleft lip and palate is noted to have bilateral paramedian lower lip pits. Family history reveals the mother has lip pits only, and a maternal uncle had an isolated cleft palate. This mix of cleft types within one family, together with the lip pits, points to Van der Woude syndrome rather than a nonsyndromic cleft.

A short boy with hypertelorism, a widow's peak, and a small upturned nose has a "shawl scrotum": scrotal skin extending superiorly to surround the base of the penis. Hands are short with simian creases and lax interphalangeal joints showing a characteristic "swan-neck" configuration.

A prenatal ultrasound at 22 weeks shows a left-sided diaphragmatic hernia, polyhydramnios, and cystic hygroma. The fetus has shortened distal phalanges of fingers and toes on imaging. After delivery, the neonate has coarse facial features, cleft lip and palate, and severe pulmonary hypoplasia.

A child has macrocephaly with frontal bossing and hypertelorism, and on examination has preaxial polydactyly of the toes (extra big toes) plus postaxial polydactyly of the hands. Cognitive development is normal. Father has the same hand and foot findings.

A newborn has a single umbilical artery on routine inspection. Prenatal imaging had shown a missing radius and an "absent stomach bubble." After birth, the infant is unable to feed and a feeding tube cannot pass, indicating esophageal atresia with tracheoesophageal fistula. Echo reveals a VSD; renal ultrasound shows unilateral renal agenesis.