tight skin contracture syndrome
MIM.275210
hyperkeratosis-contracture syndrome, lethal restrictive dermopathy, fetal hypokinesia sequence due to restrictive dermopathy
Autosomal recessive dermopathy.
Synopsis
systemic anomalies
- intrauterine growth retardation
- decreased fetal activity
- polyhydramnios
- premature rupture of membranes
- premature birth
- short umbilical cord
- hydropic placenta
- stillbirth
- liveborn often die within first week of life
craniofacial anomalies
- large fontanel
- micrognathia
- expressionless facies
- dysplastic ears
- low-set ears
- hypertelorism
- entropion
- short palpebral fissures
- sparse/absent eyelashes
- sparse/absent eyebrows
- small, pinched nose
- choanal atresia
- small mouth
- submucous cleft palate
- cleft palate
- ankylosis of temporomandibular joint
- natal teeth
cardiovascular anomalies
thoracic anomalies
- pulmonary hypoplasia
- increased anterioposterior diameter of chest
- thin, dysplastic bipartite clavicles
- ribbon-like ribs
genito-urinary anomalies
- hypospadias [Ureters]
- ureteral duplication
skeletal anomalies
- poorly mineralized skull
- widened suture
- large fontanelles
- spine
- kyphoscoliosis
- limbs
- joint contractures
- overtubulated long bones
- rocker-bottom feet
cutaneous anomalies
- skin erosions
- prominent superficial vasculature
- skin fissures (groin, axilla, neck)
- epidermal hyperkeratosis
- Dermis thinning
- abnormal alignment of collagen bundles
*absence of normal rete ridge pattern - short nails
- long nails
- sparse/absent eyelashes
- sparse/absent eyebrows
- sparse/absent lanugo
- normal scalp hair
Etiology
germline mutations in the ZMPSTE24 gene (FACE1) at 1p34 (MIM.606480) (15317753)