Disease Information for Dubowitz syndrome

Clinical Manifestations
Signs & Symptoms
Particular physiognomy/Odd looking kids
Broad flat nose/facies
Craniofacial Abnormalities/Congenital
Flat/Sloping forehead
Low forehead
Midfacial hypoplasia/flat face dysmorphism
Hair loss
Non-scarring Alopecia/balding
Fetal Growth Rate Slowing
Receding chin deformity
Mental Deficiency Child
Recurrent URI/Colds/LRI infections
Behavior characteristic/oppositional/rigid/stubborn
Hyperactivity, child/signs
Short attention span
Shy behavior pattern
Asymmetric Limbs
Cranial asymmetry
Dysmorphic dwarfism/short stature
High-pitched voice
Dysmorphic appearance/face
Growth/development delay
Short stature
Short stature Child
Eyebrow loss, outer third
Ptosis (blepharoptosis)
Low set ears/congenital
Clinical Presentation & Variations
Presentation/Multiple deformities newborn (odd look)
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Population/Pediatrics population
Sex & Age Groups
Population/Child-Infant Only
Associated Diseases & Rule outs
Rule Outs
Fetal Alcohol Syndrome (FAS)
Associated Disease & Complications
Anemia, aplastic
Congenital anomalies
Congenital eye disease/eye anomalies
Dermatitis/Chronic rash
Dubowitz Syndrome
Facial dysplasia
Growth retardation/failure
Hypertelorism/Wide Spaced Eyes
IGA deficiency, selective
Immune suppressed status
Lymphoblastic leukemia/acute
Lymphoma/Malignant lymphoma
Mental retardation
Micrognathia/congenital small chin
Multiple Congenital Anomalies
Multiple congenital anomalies/Mental retardation
Otitis media
Disease Mechanism & Classification
CLASS/Jablonski/NIH Archive Anomalies Database
CLASS/Pediatric disorders (ex)
CLASS/Fetal/conceptual products (category)
CLASS/Skeletal (category)
Pathophysiology/Asymmetric deformities
Pathophysiology/Maternal Chromosome mutation
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Congenital/developmental (category)
PROCESS/Eponymic (category)
PROCESS/Genetic disorder/Spontaneous mutations/sporadic
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Esoteric disease (example)
PROCESS/INCIDENCE/Rare disease (ex)
PROCESS/Anomalies/Deformities/Malformations (EX)
PROCESS/Dystostosis/craniofacial (ex)
Dubowitz, Dubowitz syndrome, Dubowitz's syndrome, Dubowitz's syndrome (disorder), Synonym/Intrauterine Dwarfism Syndrome

Dubowitz Syndrome is a rare syndrome found in approximately less than 200 people around the world; It is currently described as an autosomal recessive inheritance, but this is currently being challenged; Below is a general list of characteristics; Generally, the child has intrauterine growth retardation and has a low birth weight; Afterwards, the child is sometimes labeled as failure to thrive; The head is usually microcephalic and face is small with some elongation with age; Other facial characteristics can include a shallow supraorbital ridge, asymmetry, micrognathia, dysmorphic features, and a high, sloping forehead;

The ears are also sometimes prominent, low set, and/or dysplastic and the children are prone to otitis media; The eyes may have very distinct characteristics and may include short palpebral fissures, telecanthus, ptosis, blepharophimosis, epicanthal folds, sparse eyebrows, microphthalmia, hyperopia, megalocornea, iris hypoplasia, iris coloboma, and tapetoretinal degeneration; The nose can have a broad nasal tip or bridge; The mouth can have a high arched palate, submucous cleft palate, or velopharyngeal insufficiency; Teeth can be delayed when coming in, or missing, and are prone to decay or porous;

Abdominal/Gastrointestinal characteristics can include poor feeding, frequent vomiting, chronic diarrhea, and/or gastroesophageal reflux; In boys, there can be hypospadias, inguinal hernia, or cryptorchidism; Skeletal issues can be delayed bone age, fifth finger clinodactyly, two/three toe syndactyly, and pes planus; Some are very prone to eczema or have severe allergies; There also can be sacral dimple(s), sparse scalp hair, and some hypotonia; Neurologically, 10-15% have moderate to severe mental retardation or developmental delay; Also described is a tendency to be hyperactive or to have a short attention span; Speech delay is also common, as is a high pitched or nasal voice;

The child's biggest issues seem to be with the immune system; She/he may be prone to recurrent infections, hypogammaglobulinemia, IgA deficiency, aplastic anemia, acute lymphatic leukemia, lymphoma, and/or neuroblastoma

[OMIM/NIH Dubowitz website 2005]


External Links Related to Dubowitz syndrome
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)