Severe cases may respond to surgical spinal cord decompression and vertebral stabilization. [6] Associations Recognised associations are many and include: Aicardi syndrome , cleidocranial dysostosis , gastroschisis 3, Gorlin syndrome , fetal pyelectasis 3, Jarcho-Levin syndrome , OEIS complex , VACTERL association . [7] The probable cause of hemivertebrae is a lack of blood supply causing part of the vertebrae not to form. ... It can lead to an abnormal angle in the spine, there are certain syndromes associated with block vertebrae; for example, Klippel–Feil syndrome . ... "A Review of Symptomatic Lumbosacral Transitional Vertebrae: Bertolotti's Syndrome" . Int J Spine Surg . 9 : 42. doi : 10.14444/2042 . ... "A lumbosacral transitional vertebra in the dog predisposes to cauda equina syndrome". Vet Radiol Ultrasound . 47 (1): 39–44. doi : 10.1111/j.1740-8261.2005.00103.x . ... External links [ edit ] Classification D ICD - 10 : Q67.5 , Q76 .0-.4 ICD - 9-CM : 756.1 v t e Congenital malformations and deformations of musculoskeletal system / musculoskeletal abnormality Appendicular limb / dysmelia Arms clavicle / shoulder Cleidocranial dysostosis Sprengel's deformity Wallis–Zieff–Goldblatt syndrome hand deformity Madelung's deformity Clinodactyly Oligodactyly Polydactyly Leg hip Hip dislocation / Hip dysplasia Upington disease Coxa valga Coxa vara knee Genu valgum Genu varum Genu recurvatum Discoid meniscus Congenital patellar dislocation Congenital knee dislocation foot deformity varus Club foot Pigeon toe valgus Flat feet Pes cavus Rocker bottom foot Hammer toe Either / both fingers and toes Polydactyly / Syndactyly Webbed toes Arachnodactyly Cenani–Lenz syndactylism Ectrodactyly Brachydactyly Stub thumb reduction deficits / limb Acheiropodia Ectromelia Phocomelia Amelia Hemimelia multiple joints Arthrogryposis Larsen syndrome RAPADILINO syndrome Axial Skull and face Craniosynostosis Scaphocephaly Oxycephaly Trigonocephaly Craniofacial dysostosis Crouzon syndrome Hypertelorism Hallermann–Streiff syndrome Treacher Collins syndrome other Macrocephaly Platybasia Craniodiaphyseal dysplasia Dolichocephaly Greig cephalopolysyndactyly syndrome Plagiocephaly Saddle nose Vertebral column Spinal curvature Scoliosis Klippel–Feil syndrome Spondylolisthesis Spina bifida occulta Sacralization Thoracic skeleton ribs : Cervical Bifid sternum : Pectus excavatum Pectus carinatum
In 8% of patients, genetic factors are clearly associated with ARMs. [2] Anorectal malformation in Currarino syndrome represents the only association for which the gene HLXB9 has been identified. [1] [3] Contents 1 Types 2 Presentation 2.1 Associated anomalies 3 Diagnosis 4 Treatment 5 Prognosis 6 Epidemiology 7 History 8 References 9 External links Types [ edit ] There are other forms of anorectal malformations though imperforate anus is most common. ... Imperforate anus is usually present along with other birth defects— spinal problems, heart problems, tracheoesophageal fistula , esophageal atresia , renal anomalies and limb anomalies are among the possibilities, collectively being called the VACTERL association . [7] Associated anomalies [ edit ] Imperforate anus is associated with an increased incidence of some other specific anomalies as well, together being called the VACTERL association . [ citation needed ] Other entities associated with an imperforate anus are trisomies 18 and 21, the cat-eye syndrome (partial trisomy or tetrasomy of a maternally derived chromosome 22 ), Baller–Gerold syndrome , Currarino syndrome , caudal regression syndrome , FG syndrome , Johanson–Blizzard syndrome , McKusick–Kaufman syndrome , Pallister–Hall syndrome , short rib–polydactyly syndrome type 1 , Townes–Brocks syndrome , 13q deletion syndrome , urorectal septum malformation sequence and the OEIS complex ( omphalocele , exstrophy of the cloaca , imperforate anus, spinal defects). [ citation needed ] Diagnosis [ edit ] When an infant is born with an anorectal malformation, it is usually detected quickly as it is a very obvious defect. ... "Genetics, Pathogenesis and Epidemiology of Anorectal Malformations and Caudal Regression Syndrome". In Holschneider, Alexander Matthias; Hutson, John M. ... "Involvement of the HLXB9 homeobox gene in Currarino syndrome" . American Journal of Human Genetics . 66 (1): 312–9. doi : 10.1086/302723 . ... External links [ edit ] Medline Plus Medical Encyclopedia: Imperforate anus Classification D ICD - 10 : Q42.3 ICD - 9-CM : 751.2 OMIM : 301800 207500 MeSH : D001006 DiseasesDB : 34522 External resources MedlinePlus : 001147 eMedicine : ped/1171 ped/2923 v t e Congenital malformations and deformations of digestive system Upper GI tract Tongue , mouth and pharynx Cleft lip and palate Van der Woude syndrome tongue Ankyloglossia Macroglossia Hypoglossia Esophagus EA/TEF Esophageal atresia: types A, B, C, and D Tracheoesophageal fistula: types B, C, D and E esophageal rings Esophageal web (upper) Schatzki ring (lower) Stomach Pyloric stenosis Hiatus hernia Lower GI tract Intestines Intestinal atresia Duodenal atresia Meckel's diverticulum Hirschsprung's disease Intestinal malrotation Dolichocolon Enteric duplication cyst Rectum / anal canal Imperforate anus Rectovestibular fistula Persistent cloaca Rectal atresia Accessory Pancreas Annular pancreas Accessory pancreas Johanson–Blizzard syndrome Pancreas divisum Bile duct Choledochal cysts Caroli disease Biliary atresia Liver Alagille syndrome Polycystic liver disease
A number sign (#) is used with this entry because of evidence that oculoskeletodental syndrome (OCSKD) is caused by homozygous mutation in the PIK3C2A gene (603601) on chromosome 11p15. Description Oculoskeletodental syndrome is characterized by congenital cataract, short stature and various skeletal anomalies, dysmorphic facial features and dental anomalies, developmental delay, and stroke. ... Clinical Features Tiosano et al. (2019) studied 5 affected individuals, aged 8 to 20 years, from 3 unrelated consanguineous families with oculoskeletodental syndrome. Dysmorphic facial features included coarse facies, low hairline, epicanthal folds, flat and broad nasal bridges, thick columella, thick alae nasi, and retrognathia. ... Molecular Genetics In affected individuals from 3 unrelated consanguineous families with oculoskeletodental syndrome, who had negative results on targeted genetic testing for various metabolic disorders and syndromes with overlapping features, Tiosano et al. (2019) performed whole-exome sequencing and identified homozygosity for 3 different mutations in the PIK3C2A gene: a nonsense mutation in 2 Muslim-Arab Israeli sisters (family I; Y195X, 603601.0001), a large intragenic deletion in 2 Syrian brothers (family II; 603601.0002), and a splicing mutation in a 20-year-old female proband from Tunisia (family III; 603601.0003). ... INHERITANCE - Autosomal recessive GROWTH Height - Short stature Weight - Low birth weight HEAD & NECK Face - Coarse facies - Low anterior hairline - Low posterior hairline Ears - Hearing loss Eyes - Congenital cataract - Secondary glaucoma - Epicanthal folds - Duane syndrome Nose - Broad nasal bridge - Thick columella - Thick alae nasi Mouth - Macroglossia Teeth - Oligodontia - Convex maxillary incisors - Broad maxillary incisors - Narrow mandibular teeth - Enamel defects CHEST External Features - Pectus deformities - Small thorax ABDOMEN Liver - Hepatomegaly Spleen - Splenomegaly Gastrointestinal - Duodenal lymphangiectasia - Ileal lymphangiectasia - Protein-losing enteropathy GENITOURINARY Kidneys - Renal agenesis (rare) SKELETAL - Delayed bone age - Discrepant bone development Spine - Scoliosis - Cervical lordosis - Thoracic kyphosis - Square-shaped vertebral bodies in lumbar spine Pelvis - Flat pelvis - Subluxation of hips Limbs - Contractures of elbows - Reduced ossification of femoral heads - Irregular ossification of femoral head - Metaphyseal dysplasia of femoral heads - Epiphyseal dysplasia of femoral heads - Broad, short femoral neck Hands - Shortened fifth digits - Fifth-digit clinodactyly NEUROLOGIC Central Nervous System - Developmental delay - Selective mutism (rare) - Cerebral infarction - White matter lesions - Nodular lesion of thalamus - Dysgenesis of splenium of corpus callosum - Bilateral herniation of gyrus supraorbitalis ENDOCRINE FEATURES - Hypothyroidism LABORATORY ABNORMALITIES - Hypercalcemia - Hypercalciuria - Hypocalcemia - Elevated urinary mucopolysaccharide MISCELLANEOUS - Variable features may be present - Some patients show evidence of cerebral infarction in the first decade of life MOLECULAR BASIS - Caused by mutation in the phosphatidylinositol 3-kinase, class 2, alpha gene (PIK3C2A, 603601.0001 ) ▲ Close
A rare ciliopathy characterized by congenital cataract with secondary glaucoma, developmental delay, short stature, multiple skeletal abnormalities (spinal deformities, limb anomalies, delayed bone age), dental anomalies (oligodontia, enamel defects), dysmorphic facial features (including coarse facies, low hairline, epicanthal folds, flat and broad nasal bridges, and retrognathia), and stroke. Other recurrent manifestations are hearing loss and nephrocalcinosis.
According to the International Classification of Sleep Disorders, sleep-related breathing disorders are classified as follows: [1] Sleep apnea , including the more specific disorders of obstructive sleep apnea and central sleep apnea Central hypoventilation syndromes Obesity hypoventilation syndrome Sleep-related hypoxemia disorder Sleep-related hypoventilation due to a medication or substance, or due to a medical disorder Isolated symptoms produced by breathing during sleep, including snoring and catathrenia . Contents 1 Severity of sleep apneas 2 Treatments of sleep apnea 3 Central hypoventilation syndrome 4 Treatments of central hypoventilation syndrome 5 References Severity of sleep apneas [ edit ] The most severe of the sleep apneas is obstructive sleep apnea. ... The most common of these is called a uvulopalatopharyngoplasty (UPPP). [5] One can also consult their doctors about losing some weight which can also help in most cases. Central hypoventilation syndrome [ edit ] "Central hypoventilation syndrome, sometimes referred to as Ondine's curse, is an inability of the brain to detect changes in carbon dioxide levels in the body during sleep. The human body determines the amount of oxygen it needs by monitoring how much carbon dioxide is in the blood." [6] Central hypoventilation syndrome is caused by certain receptors in the brain failing to recognize changes in carbon dioxide levels during sleep, leading to a low breathing rate and low blood concentration of oxygen. ... Treatments of central hypoventilation syndrome [ edit ] The treatment for concentral hypoventilation syndrome involves breathing support during sleep, often through the assistance of a mechanical ventilator.
Psychological syndrome Ataque de nervios ( Spanish pronunciation: [aˈtake ðe ˈneɾβjos] ; Portuguese : ataque de nervos , Brazilian Portuguese: [aˈtaki dʒi ˈneɾvʊs] , European Portuguese: [ɐˈtakɨ dɨ ˈneɾvuʃ] , also known as "Puerto Rican syndrome" [1] ) is a psychological syndrome mostly associated, in the United States, with Spanish-speaking people from the Caribbean , although commonly identified among all Iberian-descended cultures. Ataque de nervios translates into English as "attack of nerves", [2] although it is used in its common cultural form to refer to a specific pattern of symptoms, rather than being a general term for feeling nervous. [3] The condition appears in Appendix I of the revised fourth edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-IV-TR) as a culture-bound syndrome . [4] [5] Contents 1 Classification 2 Symptoms 3 History 4 See also 5 References Classification [ edit ] Despite comparisons to panic attacks , investigators have identified ataque de nervios as a separate syndrome with measured differences in anxiety sensitivity, and types of attacks. Marlene Steinberg, an Associate Research Scientist at Yale University stated that because it is similar to Multiple Personality Disorder, some Hispanics may be misdiagnosed with an ataque de nervios syndrome instead. [1] [2] [6] Symptoms [ edit ] Reported aspects of the syndrome include uncontrollable screaming or shouting, crying, trembling, sensations of heat rising in the chest and head, dissociative experiences, and verbal or physical aggression. [7] [8] [9] The reaction is usually associated with a stressful event relating to the family, although it is not specifically defined as arising from such occurrences. [10] History [ edit ] Ataque de nervios was first mentioned in Puerto Rico by US military psychiatrists who observed a young Puerto Rican experiencing unusual illness. [ citation needed ] See also [ edit ] Dissociative identity disorder Nervous breakdown Susto Women on the Verge of a Nervous Breakdown Hwabyeong Posttraumatic stress disorder References [ edit ] ^ a b Steinberg, Marlene (1990) Transcultural issues in psychiatry: The Ataque and multiple personality disorder; Dissociation 3(1):31-33 https://scholarsbank.uoregon.edu/xmlui/handle/1794/1494 ^ a b Razzouk D, Nogueira B, Mari Jde J (May 2011). "The contribution of Latin American and Caribbean countries on culture bound syndromes studies for the ICD-10 revision: key findings from a working in progress" . ... Ataque de Nervios: Anthropological, epidemiological, and clinical dimensions of a cultural syndrome. In A. M. Georgiopoulos & J. F.
Description Cornea plana is clinically characterized by reduced corneal curvature leading in most cases to hyperopia, hazy corneal limbus, and arcus lipoides at an early age. CNA1, an autosomal dominant form of the disorder, is mild (summary by Tahvanainen et al., 1996). Genetic Heterogeneity of Cornea Plana Also see CNA2 (217300), an autosomal recessive form of the disorder, which is severe and frequently associated with additional ocular manifestations. Clinical Features Larsen and Eriksson (1949) described 13 patients in 3 generations of each of 2 families. Eriksson et al. (1973) described families. Waizenegger et al. (1995) described autosomal dominant cornea plana with conjunctival xerosis in an Albanian family.
A rare developmental defect of the eye characterized by usually bilateral absence of the normal protrusion of the cornea from the sclera, the corneal curvature being the same as that of the adjacent sclera. Most patients develop hyperopia, hazy corneal limbus, and arcus lipoides at an early age. The condition may present as an autosomal dominant or an autosomal recessive form, with the latter showing more severe signs and symptoms (such as a round and opaque thickening located centrally in the cornea) and more frequent association with other ocular anomalies.
Brachydactyly type E can be isolated or syndromic. If the disorder is isolated, it means that the person does not have any other health problems or symptoms related to having brachydactyly type E. If brachydactyly type E is syndromic, it means a person has another genetic disease or health issue that includes the shortening of the hand and feet bones as one of its symptoms. ... Other genetic changes are known to cause syndromes that include brachydactyly type E as a symptom. In these cases, the inheritance pattern depends on the underlying syndrome. Brachydactyly type E can be diagnosed if a doctor notices very flexible joints of the hands and shortening of the bones in the hands or feet. Genetic testing may be used to rule out genetic syndromes associated with brachydactyly.
Weisman et al. (1989) suggested the designation Storm syndrome for a disorder with male-to-male transmission observed in members of 5 generations of a family of German extraction with the name Storm. ... This, together with the taut skin over the hands and face and the excessive wrinkling of the palmar skin, created a prematurely aged appearance. Differences from Werner syndrome (277700) were dominant inheritance and lack of cataracts and scleroderma-type changes.
Gerstmann-Straussler-Scheinker syndrome (GSSS) is a particular and rare form of human transmissible spongiform encephalopathy (TSE) due to a defective gene encoding the prion protein ( PRNP gene) and marked by particular multicentric amyloid plaques in the brain. ... It causes the ataxic form of GSSS: cerebellar syndrome at onset, followed by oculomotor, pyramidal and intellectual signs.
Gerstmann-Straussler-Scheinker disease (GSS) is a type of prion disease . Prion diseases are a group of conditions that affect the nervous system. The main feature of GSS is a progressive degeneration of the cerebellum (a part of the brain that controls coordination, balance, equilibrium and muscle tone ), as well as different degrees of dementia. Signs and symptoms generally develop between ages 35 and 50 years and may include weakness in the legs, poor reflexes, abnormal sensations, progressive ataxia, cognitive dysfunction, slurred speech, and spasticity. On average, people affected by GSS survive approximately 60 months (range 2 to 10 years) following diagnosis.
On the basis of clinical and pathologic criteria, Hsiao et al. (1989) suggested that Gerstmann-Straussler syndrome could be classified into 3 forms: an 'ataxic' form, a 'dementing' form, and a dementing form that is accompanied by pathologic quantities of neurofibrillary tangles (NFTs).
Abnormally decreased distance between two body parts, usually the eyes Hypotelorism Other names Ocular hypotelorism, [1] orbital hypotelorism, [1] hypotelorbitism [2] Hypotelorism as a result of 18p- syndrome Hypotelorism is an abnormally decreased distance between two organs or bodily parts, usually pertaining to the eye sockets ( orbits ), also known as orbital hypotelorism. [1] Contents 1 Causes 2 See also 3 References 4 External links Causes [ edit ] It is often a result of fetal alcohol syndrome (FAS), caused by large alcohol intake in the first month of pregnancy. [ citation needed ] It can be associated with trisomy 13, which is also known as Patau syndrome , [3] as well as hereditary neuralgic amyotrophy . [4] It can also be associated with fragile X syndrome and Prader–Willi syndrome .
Wooden chest syndrome is a rigidity of the chest following the administration of high doses of opioids during anaesthesia . [1] Wooden chest syndrome describes marked muscle rigidity — especially involving the thoracic and abdominal muscles — that is an occasional adverse effect associated with the intravenous administration of lipophilic synthetic opioids such as fentanyl .
Crow et al. (2000, 2003) called attention to the phenotypic overlap of pseudo-TORCH syndrome and Aicardi-Goutieres syndrome (AGS; 225750), and even suggested that some cases may represent the same disorder. ... Genetic Heterogeneity of Pseudo-TORCH Syndrome See also PTORCH2 (617397), caused by mutation in the USP18 gene (607057) on chromosome 22q11. ... Slee et al. (1999) suggested that the sibs they reported represented a more severe form of pseudo-TORCH syndrome or a previously undescribed entity. ... The disorder resembled pseudo-TORCH syndrome, except that none of the patients had thrombocytopenia, hepatosplenomegaly, or congenital microcephaly. ... Although the same group (Crow et al. (2000, 2003)) had previously suggested that some cases of pseudo-TORCH syndrome may represent Aicardi-Goutieres syndrome, Briggs et al. (2008) noted that the umbrella term 'pseudo-TORCH syndrome' remains a useful designation in cases in which the disorder is clearly not Aicardi-Goutieres syndrome, as in their report.
Common computer-induced medical problems [ edit ] Notable physical medical problems that can arise from using computers include Carpal Tunnel Syndrome, Computer Vision Syndrome, and Musculoskeletal problems. [2] Carpal Tunnel Syndrome [ edit ] The medical problem associated with computer-related work is carpal tunnel syndrome (CTS). ... Computer Eye Syndrome is an umbrella term for many problems but the causes of these problems can be easily identified. ... "Computer Use and Carpal Tunnel Syndrome: A 1-Year Follow-up Study" . JAMA . 289 (22): 2963–9. doi : 10.1001/jama.289.22.2963 . ... "Clinical management of carpal tunnel syndrome: A 12-year review of outcomes". ... "Acupuncture in treatment of carpal tunnel syndrome: A randomized controlled trial study" .
The syndrome can also cause severe mental deficiencies in infants. ... The symptoms of thalidomide syndrome are defined by absent or shortened limbs; causing flipper hands and feet. ... PMID 11746009 . ^ a b c "Phocomelia Syndrome" . National Organization for Rare Disorders. 11 October 2007. ^ Hunt, Katherine Susan (2002). ... "Fifteen-Year Hunt Uncovers Gene Behind "Pseudothalidomide" Syndrome" . Johns Hopkins Medicine . Retrieved 10 December 2007 . ^ Hunter, James (1976). ... Retrieved June 26, 2017 . ^ SKUD18 at skud.org ^ Photo of Eli Bowen and Family at 19thcenturyphotos.com ^ Limbless teen who lived in plastic bowl died on Christmas Day at Telegraph.co.uk External links [ edit ] Classification D ICD - 10 : Q73.1 ICD - 9-CM : 755.2 - 755.4 MeSH : D004480 DiseasesDB : 10020 Wikimedia Commons has media related to Phocomelia . v t e Congenital malformations and deformations of musculoskeletal system / musculoskeletal abnormality Appendicular limb / dysmelia Arms clavicle / shoulder Cleidocranial dysostosis Sprengel's deformity Wallis–Zieff–Goldblatt syndrome hand deformity Madelung's deformity Clinodactyly Oligodactyly Polydactyly Leg hip Hip dislocation / Hip dysplasia Upington disease Coxa valga Coxa vara knee Genu valgum Genu varum Genu recurvatum Discoid meniscus Congenital patellar dislocation Congenital knee dislocation foot deformity varus Club foot Pigeon toe valgus Flat feet Pes cavus Rocker bottom foot Hammer toe Either / both fingers and toes Polydactyly / Syndactyly Webbed toes Arachnodactyly Cenani–Lenz syndactylism Ectrodactyly Brachydactyly Stub thumb reduction deficits / limb Acheiropodia Ectromelia Phocomelia Amelia Hemimelia multiple joints Arthrogryposis Larsen syndrome RAPADILINO syndrome Axial Skull and face Craniosynostosis Scaphocephaly Oxycephaly Trigonocephaly Craniofacial dysostosis Crouzon syndrome Hypertelorism Hallermann–Streiff syndrome Treacher Collins syndrome other Macrocephaly Platybasia Craniodiaphyseal dysplasia Dolichocephaly Greig cephalopolysyndactyly syndrome Plagiocephaly Saddle nose Vertebral column Spinal curvature Scoliosis Klippel–Feil syndrome Spondylolisthesis Spina bifida occulta Sacralization Thoracic skeleton ribs : Cervical Bifid sternum : Pectus excavatum Pectus carinatum
It can be inherited as part of a genetic syndrome. Phocomelia can also be caused by maternal exposure to certain drugs (such as thalidomide ) during pregnancy. ... However, if it is part of a genetic syndrome, surgical intervention may be recommended for associated malformations.
Cerebro-costo-mandibular syndrome (CCMS) is a very rare condition characterized by severe micrognathia (abnormally small jaw), abnormalities of the roof of the mouth (palate), and rib defects.
A number sign (#) is used with this entry because of evidence that cerebrocostomandibular syndrome (CCMS) is caused by heterozygous mutation in the SNRPB gene (182282) on chromosome 20p13. Description Cerebrocostomandibular syndrome (CCMS) is characterized mainly by severe micrognathia, rib defects, and mental retardation. ... See CDG2G (611209) for a cerebrocostomandibular-like syndrome. Clinical Features In a female and 2 male sibs, McNicholl et al. (1970) described a syndrome of mental retardation, palatal defects (short hard palate with central hole, absent soft palate, absent uvula), micrognathia, glossoptosis, and severe costovertebral abnormalities. ... Plotz et al. (1996) described 2 more sporadic cases of this syndrome in males, one of whom died at 12 hours, and the other at 10 months. ... These findings were consistent with a severe form of cerebrocostomandibular syndrome. The early fetal histopathology in both cases suggested a possible mechanism by which the characteristic 'rib gaps' of cerebrocostomandibular syndrome may develop, with evidence for abnormal function of a gene or genes involved in regulation of rib chondrogenesis.
Cerebro-costo-mandibular syndrome (CCMS) is characterized at birth by posterior rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome (see this term) that include palatal defects (short hard palate, absent soft palate, absent uvula), micrognathia and glossoptosis. ... Characteristic dorsal rib defects are sine qua non of the syndrome and often result in a bell-shaped thorax. ... Differential diagnosis Differential diagnoses include trisomies 13 and 18, and Pierre Robin syndrome (see these terms). Antenatal diagnosis Although most cases are spontaneous, both autosomal recessive and autosomal dominant patterns of inheritance have been observed in familial cases.
A rare, genetic, progeroid syndrome disorder characterized by a prematurely aged appearance (including lipoatrophy, thin, translucent skin, sparse, thin hair, and skeletal muscle atrophy), delayed tooth eruption, keloid-like lesions on pressure regions, and skeletal abnormalities including marked acroosteolysis, brachydactyly with small hands and feet, kyphoscoliosis, osteopenia, and progressive joint contractures in the fingers and toes.
A number sign (#) is used with this entry because of evidence that the Penttinen type of premature aging syndrome (PENTT) is caused by heterozygous mutation in the PDGFRB gene (173410) on chromosome 5q32. Description Penttinen syndrome is characterized by a prematurely aged appearance involving lipoatrophy and epidermal and dermal atrophy, as well as hypertrophic lesions that resemble scars, thin hair, proptosis, underdeveloped cheekbones, and marked acroosteolysis (Johnston et al., 2015). ... Zufferey et al. (2013) reported 2 unrelated patients, a 15-year-old girl of North Vietnamese and Chinese ancestry and a 20-year-old French man, who exhibited a progeroid syndrome of the Penttinen type. Although they lacked the classic progeroid facial gestalt, the patients presented a prematurely aged appearance, with premaxillary and maxillary retraction, pseudoprognathism, proptosis, and a flat occiput Their thumbs and halluces were large, broad, and spatulate. ... Molecular Genetics In a boy of Indonesian and Chinese ancestry with a premature aging syndrome of the Penttinen type, Johnston et al. (2015) performed exome sequencing and identified heterozygosity for a de novo missense mutation in the PDGFRB gene (V665A; 173410.0006). ... Exclusion Studies In a 20-year-old French man with a progeroid syndrome of the Penttinen type, Zufferey et al. (2013) excluded mutation in the FGFR1 (136350), FGFR2 (176943), TWIST (601622), LMNA (150330), and BANF1 (603811) genes.