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1 OMIM reference -
2 associated genes
40 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 11
1 OMIM reference -
3 associated genes
79 signs/symptoms
Lethal restrictive dermopathy
Wolf-Hirschhorn syndrome

LMNA LETM1
ZMPSTE24 NELFA
WHSC1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
LMNA
(0.63)
WHSC1



Citations in the biomedical literature:


Lethal restrictive dermopathy
LMNA ZMPSTE24
Wolf-Hirschhorn syndrome
LETM1 NELFA WHSC1



Lethal restrictive dermopathy
Wolf-Hirschhorn syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- 4p- syndrome
- Distal deletion 4p
- Distal monosomy 4p
- Telomeric deletion 4p

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare abdominal surgical disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare otorhinolaryngologic disease
- Rare surgical thoracic 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: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: adult
Type of inheritance: sporadic

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
2 MeSH references: C536740 / D054877


COMMON
SIGNS
- Anomalies of chest / thorax / trunk
- Atrial septal defect / interauricular communication
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Hypoplastic lungs / pulmonary hypoplasia / agenesis
- Hypospadias / epispadias / bent penis
- Kyphosis
- Low set ears / posteriorly rotated ears
- Micrognathia / retrognathia / micrognathism / retrognathism
- Microtia / cryptomicrotia / anotia / external auditory canal / pinnae aplasia / hypoplasia
- Scoliosis
- Stillbirth / neonatal death


Lethal restrictive dermopathy
Wolf-Hirschhorn syndrome

Very frequent
- Absent / decreased lashes
- Anomalies of teeth and dentition
- Autosomal recessive inheritance
- Early death / lethality
- Ectropion / entropion / eyelid eversion
- External ear anomalies
- Large fontanelle / delayed fontanelle closure
- Microstomia / little mouth
- Mouth held open
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Restricted joint mobility / joint stiffness / ankylosis
- Rough trabeculation of bone
- Short / small nose
- Thick skin / pachydermia / orange skin
- Tight skin / lack of elasticity

Frequent
- Adrenal glands anomalies
- Anomalies of eyelids, eyelashes and lacrimal system
- Bladder and ureter anomalies
- Blepharophimosis / short palpebral fissures
- Clavicle absent / abnormal
- Complete claw hand / camptodactyly of all fingers
- Diaphyseal anomaly
- Eyebrows anomalies
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Lanugo
- Patent ductus arteriosus
- Polyhydramnios

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


Very frequent
- Anodontia / oligodontia / hypodontia
- Anomalies of mouth, lip and philtrum
- Ataxia / incoordination / trouble of the equilibrium
- Broad nose / nasal bridge
- Dolichocephaly / scaphocephaly
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Downturned mouth
- Epicanthic folds
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Fetal immobility / abnormal fetal movements
- Frontal bossing / prominent forehead
- High arched eyebrows
- High forehead
- High hair line (front) / widow peak
- Hypertelorism
- Hypotonia
- Insterstitial / subtelomeric microdeletion / deletion
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Intrauterine growth retardation
- Microcephaly
- Seizures / epilepsy / absences / spasms / status epilepticus
- Short philtrum

Frequent
- Abnormal vertebral size / shape
- Anomalies of hands
- Anomalies of spine, vertebrae and pelvis
- Big toe anomaly (excluding absence)
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Cardiac septal defect
- Cardiac valvulopathy
- Cleft lip and palate
- Coloboma of iris
- Congenital cardiac anomaly / malformation / cardiopathy
- Delayed bone age
- Diaphragmatic hernia / defect / agenesis
- Foot anomalies
- Hearing loss / hypoacusia / deafness
- Long hand / arachnodactyly
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Ptosis
- Renal / kidney anomalies
- Rib number anomalies
- Sacral sinus / dimple
- Scalp / skull defect
- Talipes-varus / metatarsal varus
- Thumb duplication / distal bifid thumb phalangeal bone
- Thumb hypoplasia / aplasia / absence
- Undescended / ectopic testes / cryptorchidia / unfixed testes

Occasional
- Anomalies of the immunitary system
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Chronic / relapsing otitis
- Corpus callosum / septum pellucidum total / partial agenesis
- Gallbladder / common bile duct anomalies
- Herniae
- Hypoplastic / absent nipples
- Long limbs / dolichostenomelia
- Megalocornea
- Movement disorder
- Nystagmus
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Proptosis / exophthalmos
- Repeat respiratory infections
- Retinopathy
- Sclerocornea
- Situs inversus visceralis / colon / intestine trasposition / heterotaxia
- Strabismus / squint
- Structural anomalies of the genital system
- Structural anomalies of the kidney and the urinary tract