Humpath.com - Human pathology

Home > D. General pathology > Genetic and developmental anomalies > Dubowitz syndrome

Dubowitz syndrome

MIM.223370

Wednesday 1 November 2006

Autosomal recessive inheritance.

Synopsis

- marked microcephaly
- rare severe mental deficiency
- anorectal anomalies
- premature craniosynostosis
- intrauterine growth retardation (IUGR)
- pstnatal growth failure
- microcephaly Average birth head circumference 30.6cm
- elongation of face with age
- sall facies
- sallow supraorbital ridge
- fcial asymmetry
- mcrognathia
- hgh, sloping forehead
- pominent ears
- dsplastic ears
- oitis media
- lw-set ears
- sort palpebral fissures
- tlecanthus
- posis
- bepharophimosis
- epinthal folds
- sarse lateral eyebrows
- srabismus
- mcrophthalmia
- hperopia
- megalocornea
- iris hypoplasia
- iris coloboma
- tapetoretinal degeneration
- broad nasal tip
- broad nasal bridge
- high-arched palate
- submucous cleft palate
- delayed eruption
- caries
- missing teeth
- poor feeding
- frequent vomiting
- chronic diarrhea
- gastroesophageal reflux
- hypospadias
- inguinal hernia
- cryptorchidism
- delayed bone age
- fifth finger clinodactyly
- two-three toe syndactyly
- pes planus
- eczema (face and flexural areas)
- sacral dimple
- sparse scalp hair
- mental retardation, moderate to severe (10-15% of patients)
- hyperactivity
- hypotonia
- speech delay
- behavioral/psychiatric manifestations
- short attention span
- high-pitched voice

- immune deficiency

- tumor predisposition