Phenotypes associated with the disease Restrictive dermopathy (ORPHA:1662):
- Stiff skin (HP:0030053): An induration (hardening) of the skin. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:1662)
- Narrow mouth (HP:0000160): Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1662)
- Submucous cleft hard palate (HP:0000176): Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate that are covered by the mucous membrane of the roof of the mouth. It may be possible to detect a submucous cleft hard palate upon palpation as a notch in the bony palate. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1662)
- Hypertelorism (HP:0000316): Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1662)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1662)
- Low-set ears (HP:0000369): Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1662)
- Downslanted palpebral fissures (HP:0000494): The palpebral fissure inclination is more than two standard deviations below the mean. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1662)
- Telecanthus (HP:0000506): Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1662)
- Entropion (HP:0000621): An abnormal inversion (turning inward) of the eyelid (usually the lower) towards the globe. Entropion is usually acquired as a result of involutional or cicatricial processes but may occasionally be congenital. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1662)
- Thin ribs (HP:0000883): Ribs with a reduced diameter. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1662)
- Osteopenia (HP:0000938): Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1662)
- Short umbilical cord (HP:0001196): Decreased length of the umbilical cord. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1662)
- Intrauterine growth retardation (HP:0001511): An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1662)
- Decreased fetal movement (HP:0001558): An abnormal reduction in quantity or strength of fetal movements. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1662)
- Premature birth (HP:0001622): The birth of a baby of less than 37 weeks of gestational age. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1662)
- Patent ductus arteriosus (HP:0001643): In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1662)
- Pulmonary hypoplasia (HP:0002089). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1662)
- Abnormality of the vasculature (HP:0002597): An abnormality of the vasculature. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1662)
- Arthrogryposis multiplex congenita (HP:0002804): Multiple congenital contractures in different body areas. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1662)
- Multiple joint contractures (HP:0002828). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1662)
- Decreased skull ossification (HP:0004331): A reduction in the magnitude or amount of ossification of the skull. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1662)
- Dermal atrophy (HP:0004334): Partial or complete wasting (atrophy) of the skin. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1662)
- Widely patent fontanelles and sutures (HP:0004492): An abnormally increased width of the cranial fontanelles and sutures. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1662)
- Increased anterioposterior diameter of thorax (HP:0005253). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1662)
- Premature delivery because of cervical insufficiency or membrane fragility (HP:0005267). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1662)
- Generalized hyperkeratosis (HP:0005595). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1662)
- Small placenta (HP:0006266): Reduced size of the placenta. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1662)
- Thin clavicle (HP:0006645): Abnormally reduced diameter (cross section) of the clavicles. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1662)
- Aplasia/Hypoplasia of the clavicles (HP:0006710): Absence or underdevelopment of the clavicles (collar bones). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1662)
- Aplasia/Hypoplasia of the eccrine sweat glands (HP:0007592): Absence or developmental hypoplasia of the eccrine sweat glands. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1662)
- Sparse hair (HP:0008070): Reduced density of hairs. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1662)
- Aplasia/Hypoplasia involving the nose (HP:0009924): Underdevelopment or absence of the nose or parts thereof. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1662)
- Structural foot deformity (HP:0010219): A foot deformity resulting due to an abnormality affecting the bones of the foot (as well as muscle and soft tissue). In contrast if only the muscle and soft tissue are affected the term positional foot deformity applies. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1662)
- Dermal translucency (HP:0010648): An abnormally increased ability of the skin to permit light to pass through (translucency) such that subcutaneous structures such as veins display an increased degree of visibility. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1662)
- Temporomandibular joint ankylosis (HP:0012478): Bony fusion of the mandibular condyle to the base of the skull, resulting in limitation of jaw opening. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1662)
- Short palpebral fissure (HP:0012745): Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1662)
- Abnormal cellular phenotype (HP:0025354): An anomaly of cellular morphology or physiology. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1662)
- Scaling skin (HP:0040189): Refers to the loss of the outer layer of the epidermis in large, scale-like flakes. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1662)
- Sparse eyebrow (HP:0045075): Decreased density/number of eyebrow hairs. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1662)
- Skin erosion (HP:0200041): A discontinuity of the skin exhibiting incomplete loss of the epidermis, a lesion that is moist, circumscribed, and usually depressed. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1662)
- Sparse or absent eyelashes (HP:0200102). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1662)
- Hypospadias (HP:0000047): Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1662)
- Ureteral duplication (HP:0000073): A developmental anomaly characterized by the presence of two, instead of one, ureter connecting a kidney to the bladder. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1662)
- Choanal atresia (HP:0000453): Absence or abnormal closure of the choana (the posterior nasal aperture). Most embryologists believe that posterior choanal atresia results from a failure of rupture between the 35th and 38th day of fetal life of the partition which separates the bucconasal or buccopharyngeal membranes. The resultant choanal atresia may be unilateral or bilateral, bony or membranous, complete or incomplete. In over 90 per cent of cases the obstruction is bony, while in the remainder it is membranous. The bony type of atresia is commonly located 1-2 mm. anterior to the posterior edge of the hard palate, and the osseous septum varies in thickness from 1 to 10 mm. In the membranous form of choanal atresia the obstruction usually occurs further posteriorly. In approximately one third of cases the atresia is bilateral. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1662)
- Webbed neck (HP:0000465): Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1662)
- Natal tooth (HP:0000695): A tooth present at birth or erupting within the first month of life. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1662)
- Polyhydramnios (HP:0001561): The presence of excess amniotic fluid in the uterus during pregnancy. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1662)
- Atrial septal defect (HP:0001631): Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1662)
- Dextrocardia (HP:0001651): The heart is located in the right hand sided hemithorax. That is, there is a left-right reversal (or "mirror reflection") of the anatomical location of the heart in which the heart is locate on the right side instead of the left. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1662)
- Transposition of the great arteries (HP:0001669): A complex congenital heart defect in which the aorta arises from the morphologic right ventricle and the pulmonary artery arises from the morphologic left ventricle. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1662)
- Short nail (HP:0001799): Decreased length of nail. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1662)
- Microcolon (HP:0004388): A colon of abnormally small caliber. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1662)
- Ascending tubular aorta aneurysm (HP:0004970): An abnormal localized widening (dilatation) of the tubular part of the ascending aorta. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1662)
- Thoracic kyphoscoliosis (HP:0005659). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1662)
- Large placenta (HP:0006267): Increased size of the placenta. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1662)
- Congenital adrenal hypoplasia (HP:0008244): A type of adrenal hypoplasia with congenital onset. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1662)
- Camptodactyly of finger (HP:0100490): The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1662)
- Hyperkeratosis (HP:0000962): Hyperkeratosis is a histopathological term defining a thickened stratum corneum and may be present in many different skin conditions, with many possible overlaps. Hyperkeratosis refers to the increased thickness of the stratum corneum, the outer layer of the skin. Hyperkeratosis is subclassified as orthokeratotic or parakeratotic. Orthokeratotic hyperkeratosis refers to the thickening of the keratin layer with preserved keratinocyte maturation, while parakeratotic hyperkeratosis shows retained nuclei as a sign of delayed maturation of keratinocytes. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1662)