Disease Information for Dubowitz syndrome

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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
Baldness/Alopecia
Hair loss
Non-scarring Alopecia/balding
Rash
Fetal Growth Rate Slowing
Receding chin deformity
Hypotonia
Mental Deficiency Child
Recurrent URI/Colds/LRI infections
Behavior characteristic/oppositional/rigid/stubborn
Hyperactivity, child/signs
Short attention span
Shy behavior pattern
Stubborn
Asymmetric Limbs
Cranial asymmetry
Dysmorphic dwarfism/short stature
High-pitched voice
Snoring
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
Child
Infant
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Population/Infant
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
Eczema
Facial dysplasia
Growth retardation/failure
Hypertelorism/Wide Spaced Eyes
IGA deficiency, selective
Immune suppressed status
Lymphoblastic leukemia/acute
Lymphoma/Malignant lymphoma
Mental retardation
Microcephaly/oligophrenia
Micrognathia/congenital small chin
Multiple Congenital Anomalies
Multiple congenital anomalies/Mental retardation
Neuroblastoma
Otitis media
Pancytopenia
Disease Mechanism & Classification
Class
CLASS/Jablonski/NIH Archive Anomalies Database
CLASS/Pediatric disorders (ex)
CLASS/Fetal/conceptual products (category)
CLASS/Skeletal (category)
Pathophysiology
Pathophysiology/Asymmetric deformities
Pathophysiology/Maternal Chromosome mutation
Process
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)
Synonyms
Synonym
Dubowitz, Dubowitz syndrome, Dubowitz's syndrome, Dubowitz's syndrome (disorder), Synonym/Intrauterine Dwarfism Syndrome
Definition

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]

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