Arthritis, and Joint laxity

Diseases related with Arthritis and Joint laxity

In the following list you will find some of the most common rare diseases related to Arthritis and Joint laxity that can help you solving undiagnosed cases.


Top matches:

Medium match EHLERS-DANLOS SYNDROME TYPE 7B


Arthrochalasia-type EDS is distinguished from other types of EDS by the frequency of congenital hip dislocation and extreme joint laxity with recurrent joint subluxations and minimal skin involvement (Byers et al., 1997; Giunta et al., 2008).For a discussion of genetic heterogeneity of arthrochalasia-type EDS, see {130060}.

EHLERS-DANLOS SYNDROME TYPE 7B Is also known as eds viib|ehlers-danlos syndrome, type viib, autosomal dominant|eds7b

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Micrognathia
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME TYPE 7B

Medium match EHLERS-DANLOS SYNDROME DUE TO TENASCIN-X DEFICIENCY


Ehlers-Danlos syndrome due to tenascin-X deficiency is a type of Ehlers-Danlos syndrome characterized by generalized joint hypermobility, skin hyperextensibility and easy bruising without atrophic scarring. Other common features include foot and hand deformities (piezogenic papules, pes planus, broad forefeet, brachydactyly, and acrogenic skin of hands), severe fatigue and neuromuscular symptoms including muscle weakness and myalgia.

EHLERS-DANLOS SYNDROME DUE TO TENASCIN-X DEFICIENCY Is also known as eds, classic-like type|ehlers-danlos syndrome, classic-like type|ehlers-danlos syndrome due to tenascin-x deficiency|eds due to tnx deficiency|tnx deficiency

Related symptoms:

  • Muscle weakness
  • Muscular hypotonia
  • Pain
  • Peripheral neuropathy
  • Skeletal muscle atrophy


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about EHLERS-DANLOS SYNDROME DUE TO TENASCIN-X DEFICIENCY

Medium match EHLERS-DANLOS SYNDROME, PERIODONTITIS TYPE


Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility.

EHLERS-DANLOS SYNDROME, PERIODONTITIS TYPE Is also known as ehlers-danlos syndrome, periodontitis type|ehlers-danlos syndrome, periodontosis type|ehlers-danlos syndrome, type viii|ehlers-danlos syndrome type 8|eds viii|eds8

Related symptoms:

  • Short stature
  • Scoliosis
  • Neoplasm
  • Micrognathia
  • Pain


SOURCES: ORPHANET OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, PERIODONTITIS TYPE

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Other less relevant matches:

Medium match ANEURYSM-OSTEOARTHRITIS SYNDROME


ANEURYSM-OSTEOARTHRITIS SYNDROME Is also known as loeys-dietz syndrome with osteoarthritis|loeys-dietz syndrome, type 1c, formerly|lds1c, formerly|aneurysms-osteoarthritis syndrome

Related symptoms:

  • Scoliosis
  • Hypertelorism
  • Cleft palate
  • Pain
  • High palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about ANEURYSM-OSTEOARTHRITIS SYNDROME

Medium match EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1; EDSCL1


The Ehlers-Danlos syndromes (EDS) are a group of heritable connective tissue disorders that share the common features of skin hyperextensibility, articular hypermobility, and tissue fragility. The main features of classic Ehlers-Danlos syndrome are loose-jointedness and fragile, bruisable skin that heals with peculiar 'cigarette-paper' scars (Beighton, 1993). Genetic Heterogeneity of Classic Ehlers-Danlos SyndromeSee EDSCL2 (OMIM ), caused by mutation in the COL5A2 gene (OMIM ) on chromosome 2q32. Classification of Ehlers-Danlos SyndromeThe current OMIM classification of Ehlers-Danlos syndromes is based on a 2017 international classification described by Malfait et al. (2017), which recognizes 13 EDS subtypes: classic, classic-like ({606408}, {618000}), cardiac-valvular (OMIM ), vascular (OMIM ), hypermobile (OMIM ), arthrochalasia ({130060}, {617821}), dermatosparaxis (OMIM ), kyphoscoliotic ({225400}, {614557}), spondylodysplastic ({130070}, {615349}), musculocontractural ({601776}, {615539}), myopathic (OMIM ), periodontal ({130080}, {617174}), and brittle cornea syndrome ({229200}, {614170}). This classification is a revision of the 'Villefranche classification' reported by Beighton et al. (1998), which was widely used in the literature and in OMIM. For a description of the Villefranche classification, see HISTORY.In an early classification of EDS, the designations EDS I and EDS II were used for severe and mild forms of classic EDS, respectively. EDS I was characterized by marked skin involvement and generalized, gross joint laxity, with musculoskeletal deformity and diverse orthopedic complications. Prematurity occurred in approximately 50% of cases. Internal complications such as aortic and bowel rupture were occasionally present. EDS II had all the stigmata of EDS I, but to a minor degree (summary by Steinmann et al., 2002). Both were considered to be forms of classic EDS.

EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1; EDSCL1 Is also known as ehlers-danlos syndrome, gravis type, formerly|eds i, formerly|eds1, formerly|ehlers-danlos syndrome, type i, formerly|ehlers-danlos syndrome, severe classic type, formerly

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Motor delay
  • Hypertension
  • Epicanthus


SOURCES: OMIM MESH MENDELIAN

More info about EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1; EDSCL1

Medium match SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS


Spondyloepimetaphyseal dysplasia with multiple dislocations is a rare genetic primary bone dysplasia disorder characterized by midface hypoplasia, short stature, generalized joint laxity, multiple joint dislocations (most frequently of knees and hips), limb malalignment (genu valgum/varum) and progressive spinal deformity (e.g. kyphosis/scoliosis). Radiography reveals distinctive slender metacarpals and metatarsals, as well as small, irregular epiphyses, metaphyseal irregularities with vertical striations, constricted femoral necks and mild platyspondyly, among others.

SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS Is also known as semd-md|semdjl2|spondyloepimetaphyseal dysplasia with joint laxity type 2|spondyloepimetaphyseal dysplasia with joint laxicity, hall type|spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type|spondyloepimetaphyseal dysplasia with multiple

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS

Medium match NEUROECTODERMAL-ENDOCRINE SYNDROME


Neuroectodermal-endocrine syndrome is characterised by a combination of endocrine and neuroectodermal abnormalities, including low growth hormone levels, delayed puberty, type II diabetes mellitus, mild intellectual deficit, sensorineural deafness, characteristic facial appearance and alopecia. It has been described in four sibs from Myanmar.

NEUROECTODERMAL-ENDOCRINE SYNDROME Is also known as pseudoachondroplastic dysplasia|oerter-friedman-anderson syndrome|spondyloepiphyseal dysplasia, pseudoachondroplastic

Related symptoms:

  • Short stature
  • Scoliosis
  • Growth delay
  • Pain
  • Brachydactyly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NEUROECTODERMAL-ENDOCRINE SYNDROME

Medium match EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE


Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS (see this term), a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations.

EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE Is also known as benign joint hypermobility syndrome|ehlers-danlos syndrome, hypermobile type|ht-eds|ehlers-danlos syndrome, type iii|benign hypermobility syndrome|ehlers-danlos syndrome type 3|eds iii|eds3|bjhs

Related symptoms:

  • Scoliosis
  • Pain
  • Ptosis
  • Epicanthus
  • Fatigue


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE

Medium match DESBUQUOIS DYSPLASIA 1; DBQD1


Desbuquois dysplasia (DBQD) is an autosomal recessive chondrodysplasia belonging to the multiple dislocation group and characterized by severe prenatal and postnatal growth retardation (stature less than -5 SD), joint laxity, short extremities, and progressive scoliosis. The main radiologic features are short long bones with metaphyseal splay, a 'Swedish key' appearance of the proximal femur (exaggerated trochanter), and advanced carpal and tarsal bone age with a delta phalanx (summary by Huber et al., 2009).Desbuquois dysplasia is clinically and radiographically heterogeneous, and had been classified into 2 types based on the presence (type 1) or absence (type 2) of characteristic hand anomalies, including an extra ossification center distal to the second metacarpal, delta phalanx, bifid distal thumb phalanx, and dislocation of the interphalangeal joints (Faivre et al., 2004). However, patients with and without these additional hand anomalies have been reported to have mutations in the same gene (see, e.g., CANT1); thus, these features are not distinctive criteria to predict the molecular basis of DBQD (Furuichi et al., 2011). In addition, Kim et al. (2010) described another milder variant of DBQD with almost normal outwardly appearing hands, but significant radiographic changes, including short metacarpals, elongated phalanges, and remarkably advanced carpal bone age. However, there is no accessory ossification center distal to the second metacarpal, and patients do not have thumb anomalies. Similar changes occur in the feet. These patients also tend to develop precocious osteoarthritis of the hand and spine with age. This phenotype is sometimes referred to as the 'Kim variant' of DBQD (Furuichi et al., 2011). Genetic Heterogeneity of Desbuquois DysplasiaDBQD2 (OMIM ) is caused by mutation in the XYLT1 gene (OMIM ) on chromosome 16p12.Two unrelated patients with immunodeficiency-23 (IMD23 ), due to mutation in the PGM3 gene (OMIM ), were reported to have skeletal features reminiscent of DBQD.

DESBUQUOIS DYSPLASIA 1; DBQD1 Is also known as desbuquois syndrome|micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about DESBUQUOIS DYSPLASIA 1; DBQD1

Medium match LOEYS-DIETZ SYNDROME 1; LDS1


The Loeys-Dietz syndrome (LDS) is an autosomal dominant aortic aneurysm syndrome with widespread systemic involvement. As defined by Loeys et al. (2006), the disorder is characterized by the triad of arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. Some patients have craniofacial involvement consisting of cleft palate, craniosynostosis, or hypertelorism. Bifid uvula may also be present. The natural history is characterized by aggressive arterial aneurysms and a high rate of pregnancy-related complications.LDS is also associated with immunologic-related disorders: approximately one-third of affected individuals exhibit food allergies, in contrast to a prevalence of 6 to 8% in the general population, and LDS patients have an increased prevalence of asthma, rhinitis, and eczema (summary by MacCarrick et al., 2014). NomenclatureIn initial reports, LDS patients, defined as those with mutations in TGFBR1 or TGFBR2, were stratified into 2 types, depending on severity of craniofacial features (type 1) or cutaneous features (type 2) (MacCarrick et al., 2014). Given that vascular disease is the major concern in LDS irrespective of the severity of systemic features, a revised nosology was proposed with sequential numbering corresponding to the gene mutant in each group (see below). Genetic Heterogeneity of Loeys-Dietz SyndromeLDS1 is caused by mutation in the TGFBR1 gene. LDS2 (OMIM ) is caused by mutation in the TGFBR2 gene (OMIM ). LDS3 (OMIM ), which is associated with early-onset osteoarthritis, is caused by mutation in the SMAD3 gene (OMIM ). LDS4 (OMIM ) is caused by mutation in the TGFB2 gene (OMIM ). LDS5 (OMIM ) is caused by mutation in the TGFB3 gene (OMIM ). ReviewsMacCarrick et al. (2014) provided a review of LDS, stating that there are no specific clinical criteria for the diagnosis, which is confirmed by molecular testing. They proposed that mutation in any of the 4 genes, TGFBR1, TGFBR2, SMAD3, or TGFB2, in combination with arterial aneurysm or dissection or a family history of documented LDS, should be sufficient to establish the diagnosis. The authors noted that rapidly progressive aortic aneurysmal disease is a distinct feature of LDS, and they discussed management strategies for cardiovascular issues as well as other complications of LDS.

LOEYS-DIETZ SYNDROME 1; LDS1 Is also known as aat5|aortic aneurysm, familial thoracic 5|loeys-dietz aortic aneurysm syndrome|furlong syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about LOEYS-DIETZ SYNDROME 1; LDS1

Top 5 symptoms//phenotypes associated to Arthritis and Joint laxity

Symptoms // Phenotype % cases
Osteoarthritis Very Common - Between 80% and 100% cases
Pes planus Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Soft skin Common - Between 50% and 80% cases
Joint dislocation Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Arthritis and Joint laxity. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Dilatation

Uncommon Symptoms - Between 30% and 50% cases


Bruising susceptibility

Common Symptoms - More than 50% cases


Joint hyperflexibility

Uncommon Symptoms - Between 30% and 50% cases


Short stature

Common Symptoms - More than 50% cases


Osteoporosis

Uncommon Symptoms - Between 30% and 50% cases


Hernia Umbilical hernia Pain Joint hypermobility Mitral valve prolapse Atrophic scars Hyperextensible skin Poor wound healing Inguinal hernia Skeletal dysplasia Arthralgia Kyphoscoliosis Generalized hypotonia Talipes equinovarus Micrognathia Generalized joint laxity Blue sclerae Abnormal joint morphology Arachnodactyly Kyphosis Mitral regurgitation Genu varum Abnormality of the skeletal system Micromelia Platyspondyly Intellectual disability Malar flattening Atrial septal defect Aortic root aneurysm Striae distensae Aortic aneurysm Spondylolisthesis Myopia Epicanthus Thin skin Cleft palate Hyperlordosis Fragile skin Hip dislocation Muscular hypotonia Depressed nasal bridge Muscle weakness

Rare Symptoms - Less than 30% cases


Microretrognathia Dural ectasia Metaphyseal widening Ectopia lentis Asthma Abnormality of the foot High palate Ptosis Abdominal distention Ascending tubular aorta aneurysm Motor delay Thoracic aortic aneurysm Arterial tortuosity Patent ductus arteriosus Clinodactyly Aortic dissection Disproportionate short-limb short stature Abnormality of the sternum Disproportionate tall stature Proptosis Bicuspid aortic valve Migraine Camptodactyly Dilatation of the cerebral artery Large joint dislocations Rhizomelia Nail dysplasia Irregular epiphyses Growth delay Generalized osteoporosis Delayed epiphyseal ossification Brachydactyly Irregular vertebral endplates Hypertelorism Flared metaphysis Metaphyseal irregularity Epiphyseal dysplasia Severe short stature Short long bone Abnormality of epiphysis morphology Osteopenia Carpal bone hypoplasia Genu valgum Short distal phalanx of finger Short metacarpal Midface retrusion Waddling gait Short nose Intellectual disability, mild Short neck Anteverted nares Frontal bossing Macrocephaly Abnormal facial shape Global developmental delay Premature rupture of membranes Small epiphyses Cigarette-paper scars Gingivitis Myalgia Scarring Gastroesophageal reflux Bifid uvula Abnormality of the dentition Arrhythmia Subarachnoid hemorrhage Gingival overgrowth Periodontitis Hallux valgus Hyperextensibility of the finger joints Rectal prolapse Wormian bones Hiatus hernia Congenital hip dislocation Sensory neuropathy Microdontia Fatigue Osteolysis Edema Atypical scarring of skin Keratoconus Acrocyanosis Keratoconjunctivitis sicca Decreased fertility Elbow dislocation Decreased nerve conduction velocity Abnormal palate morphology Abnormality of the wrist Abnormality of the menstrual cycle Aplasia/Hypoplasia of the abdominal wall musculature Intrauterine growth retardation Recurrent fractures Narrow mouth Respiratory failure Glaucoma Obesity Immunodeficiency Respiratory distress Genital hernia Gastrointestinal dysmotility Cystocele Tendon rupture Arterial dissection Anorectal anomaly Abnormality of the gingiva Limitation of joint mobility Venous insufficiency Subcutaneous nodule Malabsorption Delayed gross motor development Hamartomatous polyposis Cervical instability Premature osteoarthritis Cervical myelopathy Ulnar deviation of the wrist Atlantoaxial dislocation Decreased testosterone in males Myelopathy Flared femoral metaphysis Ulnar deviation of the hand Decreased serum estradiol Decreased serum testosterone level Intestinal polyposis Enlarged joints Multiple epiphyseal dysplasia Beaking of vertebral bodies Cervical cord compression Irregular carpal bones Sleep disturbance Vomiting Nausea Vertigo Paresthesia Nausea and vomiting Apnea Constipation Depressivity Small epiphyses of the phalanges of the hand Limited hip extension Spatulate ribs Fragmented, irregular epiphyses Ulnar metaphyseal irregularity Radial metaphyseal irregularity Fragmented epiphyses Lumbar spinal canal stenosis Childhood onset short-limb short stature High forehead Flat face Abnormality of the kidney Craniosynostosis Eczema Postaxial hand polydactyly Thin vermilion border Facial asymmetry Dolichocephaly Broad forehead Pectus carinatum Retrognathia Joint contracture of the hand Posteriorly rotated ears Clinodactyly of the 5th finger Hypospadias Hydrocephalus Downslanted palpebral fissures Splayed fingers Medial deviation of the foot Exotropia Finger clinodactyly Broad first metatarsal Long thorax Bicuspid pulmonary valve Generalized arterial tortuosity Descending thoracic aorta aneurysm Pulmonary artery aneurysm Multiple suture craniosynostosis Cystic medial necrosis Ascending aortic dissection Unilateral ptosis Arnold-Chiari malformation Dermal translucency Long toe Sagittal craniosynostosis High anterior hairline Narrow nose Scaphocephaly Rhinitis Myopathic facies Radioulnar dislocation Proximal fibular overgrowth Postnatal growth retardation Bowing of the long bones Abnormality of the hand Short metatarsal Sandal gap Coxa vara Coxa valga Horseshoe kidney Broad thumb Depressed nasal ridge Thoracic hypoplasia Wide intermamillary distance Round face Renal cyst Upper limb undergrowth Smooth philtrum Narrow chest Joint stiffness Short femoral neck Congenital glaucoma Multiple carpal ossification centers Long upper lip Supernumerary metacarpal bones Phalangeal dislocation Partial duplication of the distal phalanx of the hallux Advanced tarsal ossification Bifid distal phalanx of the thumb Multiple joint dislocation Advanced ossification of carpal bones Vertebral clefting Cystic hygroma Hypoplastic vertebral bodies Flattened epiphysis Open angle glaucoma Broad femoral neck Coronal cleft vertebrae Short 1st metacarpal Flat acetabular roof Protuberant abdomen Genu recurvatum Rickets Insulin-resistant diabetes mellitus Recurrent infections Molluscoid pseudotumors Narrow maxilla Lop ear Eczematoid dermatitis Bladder diverticulum Varicose veins Erythema Arterial rupture Infantile muscular hypotonia Recurrent urinary tract infections Inflammatory abnormality of the skin Autoimmunity Retinal detachment Carious teeth Fine hair Myxomatous mitral valve degeneration Irregularly spaced teeth Hypertension Quadricuspid aortic valve Elevated serum creatine phosphokinase Increased connective tissue Muscle fiber splitting Arteriosclerosis Congenital adrenal hyperplasia Ambiguous genitalia, female Premature arteriosclerosis Low-set ears Bowel diverticulosis Neoplasm Flexion contracture Membranous ventricular septal aneurysm Premature birth following premature rupture of fetal membranes Hyperextensibility of the knee Subcutaneous spheroids Hyperextensibility at elbow Tall stature Knee osteoarthritis Bicornuate uterus Mitral stenosis Ventricular hypertrophy Dental malocclusion Premature loss of teeth Pulmonic stenosis Gingival bleeding Headache Chronic pain Left ventricular hypertrophy Premature loss of primary teeth Alveolar bone loss around teeth Atrophy of alveolar ridges Severe periodontitis Intestinal perforation Gingival recession Premature loss of permanent teeth Atrial fibrillation Aortic regurgitation Uterine prolapse Low back pain Intervertebral disc degeneration Protrusio acetabuli Abdominal aortic aneurysm Hoarse voice Vasculitis Hip osteoarthritis Osteochondritis Dissecans Cutis laxa Skin vesicle Dermal atrophy Urticaria Slender finger Hypermelanotic macule Agenesis of permanent teeth Long nose Back pain Precocious atherosclerosis Proximal amyotrophy Hypoplasia of the odontoid process Alopecia Growth hormone deficiency Skeletal muscle atrophy Short foot Short palm Delayed puberty Proximal muscle weakness Delayed skeletal maturation Limb undergrowth Gait disturbance Delayed phalangeal epiphyseal ossification Long proximal phalanx of finger Long distal phalanx of finger Slender distal phalanx of finger Caudal interpedicular narrowing Slender proximal phalanx of finger Peripheral neuropathy Bilateral sensorineural hearing impairment Streaky metaphyseal sclerosis Palmoplantar cutis laxa Spinal canal stenosis Metaphyseal dysplasia Disproportionate short stature Abnormality of the hip bone Limited elbow extension Bowing of the legs Spondyloepiphyseal dysplasia Scaling skin Lumbar hyperlordosis Hyperinsulinemia Excessive wrinkled skin Hypogonadotrophic hypogonadism Abnormal vertebral morphology Subcutaneous hemorrhage Abnormality of the metaphysis Type II diabetes mellitus Abnormal calcification of the carpal bones Delayed patellar ossification Talipes Spina bifida occulta Gastrointestinal hemorrhage Thoracolumbar scoliosis Ambiguous genitalia Tracheomalacia Thoracic scoliosis Dislocated radial head Spina bifida Stridor Spondyloepimetaphyseal dysplasia Rheumatoid arthritis Psoriasiform dermatitis Unilateral renal agenesis Adrenal hypoplasia Broad nasal tip Wide nose Adrenal hyperplasia Upper airway obstruction Vesicoureteral reflux Narrow femoral neck Laryngeal stenosis Slender metacarpals Posterior scalloping of vertebral bodies Abnormality of the patella Stroke Narrow vertebral interpedicular distance Laryngotracheomalacia Abnormal bone ossification Abnormal sacrum morphology Single transverse palmar crease Inspiratory stridor Spinal dysraphism Flat capital femoral epiphysis Thoracolumbar kyphosis Enlarged thorax Broad distal phalanx of finger Hypoplasia of the capital femoral epiphysis Biconvex vertebral bodies



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Long philtrum, related diseases and genetic alterations

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