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1 OMIM reference -
2 associated genes
40 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 5
2 OMIM references -
2 associated genes
44 signs/symptoms
Lethal restrictive dermopathy
Baraitser-Winter syndrome

LMNA ACTB
ZMPSTE24 ACTG1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
LMNA
(0.52)
ACTB



Citations in the biomedical literature:


Lethal restrictive dermopathy
LMNA ZMPSTE24
Baraitser-Winter syndrome
ACTB ACTG1



Lethal restrictive dermopathy
Baraitser-Winter syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- Cerebrofrontofacial syndrome type 3
- Iris coloboma-ptosis-intellectual deficit syndrome

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
2 OMIM references -
No MeSH references


COMMON
SIGNS
- Autosomal recessive inheritance
- Large fontanelle / delayed fontanelle closure
- Micrognathia / retrognathia / micrognathism / retrognathism
- Restricted joint mobility / joint stiffness / ankylosis
- Scoliosis


Lethal restrictive dermopathy
Baraitser-Winter syndrome

Very frequent
- Absent / decreased lashes
- Anomalies of teeth and dentition
- Early death / lethality
- Ectropion / entropion / eyelid eversion
- External ear anomalies
- Hypoplastic lungs / pulmonary hypoplasia / agenesis
- Low set ears / posteriorly rotated ears
- Microstomia / little mouth
- Mouth held open
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Rough trabeculation of bone
- Short / small nose
- Stillbirth / neonatal death
- Thick skin / pachydermia / orange skin
- Tight skin / lack of elasticity

Frequent
- Adrenal glands anomalies
- Anomalies of chest / thorax / trunk
- Anomalies of eyelids, eyelashes and lacrimal system
- Atrial septal defect / interauricular communication
- Bladder and ureter anomalies
- Blepharophimosis / short palpebral fissures
- Clavicle absent / abnormal
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Complete claw hand / camptodactyly of all fingers
- Diaphyseal anomaly
- Eyebrows anomalies
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Hypospadias / epispadias / bent penis
- Kyphosis
- Lanugo
- Microtia / cryptomicrotia / anotia / external auditory canal / pinnae aplasia / hypoplasia
- Patent ductus arteriosus
- Polyhydramnios

Occasional
- Aortic root dilatation / dilation / aneurysm
- Dextrocardia / abnormal heart position / cardiac heterotaxia / situs inversus


Very frequent
- Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect
- Broad cheeks / cherub-like / cherubin face
- Broad nose / nasal bridge
- Coarse face
- Coloboma of iris
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Epicanthic folds
- Euryblepharon / wide palpebral fissures
- Failure to thrive / difficulties for feeding in infancy / growth delay
- High arched eyebrows
- Hypertelorism
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Long philtrum
- Macrostomia / big mouth
- Pointed chin
- Prominent metopic suture
- Ptosis
- Seizures / epilepsy / absences / spasms / status epilepticus
- Short columella / depressed nasal tip
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Telecanthus / canthal dystopy
- Thin / retracted lips

Frequent
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Heterochromia / mixed colouring of iris
- Long / large / bulbous nose
- Low hair line (back)
- Megaureter / hydronephrosis / pyeloureteral junction syndrome
- Microcephaly
- Retinoschisis / retinal / chorioretinal coloboma
- Short neck
- Trigonocephaly

Occasional
- Coloboma of the optic nerve
- Microcornea
- Puffy eyelids
- Thumb duplication / distal bifid thumb phalangeal bone
- Transient cerebral ischemia / stroke
- Webbed neck / pterygium colli