Arthritis, and Postaxial hand polydactyly

Diseases related with Arthritis and Postaxial hand polydactyly

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


Top matches:

Low match CHONDRODYSPLASIA, GREBE TYPE


Grebe chondrodysplasia is an autosomal recessive disorder characterized by severe abnormality of the limbs and limb joints. The severity of limb shortening progresses in a proximal-distal gradient, with the hands and feet being most affected. The fingers and toes lack articulation and appear as skin appendages. In contrast, axial skeletal structures and the craniofacial skeleton are not affected. Heterozygous individuals are of average stature and have mild skeletal abnormalities (summary by Thomas et al., 1997).

CHONDRODYSPLASIA, GREBE TYPE Is also known as grebe chondrodysplasia|grebe dysplasia|achondrogenesis, brazilian|acromesomelic dysplasia, grebe type|amdg|achondrogenesis, type ii, formerly

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about CHONDRODYSPLASIA, GREBE TYPE

Low 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

Low match OSTEOCHONDRODYSPLASIA, BRACHYDACTYLY, AND OVERLAPPING MALFORMED DIGITS; OCBMD


Osteochondrodysplasia, brachydactyly, and overlapping malformed digits (OCBMD) is characterized by bilateral symmetric skeletal defects that primarily affect the limbs. Affected individuals have mild short stature due to shortening of the lower leg bones, as well as hand and foot malformations, predominantly brachydactyly and overlapping digits. Other skeletal defects include scoliosis, dislocated patellae and fibulae, and pectus excavatum (Shabbir et al., 2018).

Related symptoms:

  • Short stature
  • Scoliosis
  • Neoplasm
  • Pain
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about OSTEOCHONDRODYSPLASIA, BRACHYDACTYLY, AND OVERLAPPING MALFORMED DIGITS; OCBMD

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Other less relevant matches:

Low match POLYDACTYLY, POSTAXIAL, TYPE A6; PAPA6


Related symptoms:

  • Abnormal facial shape
  • Hyperhidrosis
  • Postaxial hand polydactyly
  • Broad phalanges of the 5th finger


SOURCES: OMIM MENDELIAN

More info about POLYDACTYLY, POSTAXIAL, TYPE A6; PAPA6

Low match POSTAXIAL POLYDACTYLY TYPE A


Polydactyly refers to the occurrence of supernumerary digits and is the most frequent of congenital hand and foot deformities. Based on the location of the extra digits, polydactyly can be classified into preaxial, involving the thumb or great toe; postaxial, affecting the fifth digit; and central, involving the 3 central digits. Postaxial polydactyly (PAP) is further subclassified into 2 types: in type A, a well-formed extra digit articulates with the fifth or a sixth metacarpal, whereas in type B, a rudimentary, poorly developed extra digit is present (summary by Umm-e-Kalsoom et al., 2012). Genetic Heterogeneity of Postaxial PolydactylyOther forms of postaxial polydactyly type A include PAPA2 (OMIM ) on chromosome 13q21; PAPA3 (OMIM ) on chromosome 19p13; PAPA4 (OMIM ) on chromosome 7q22; PAPA5 (OMIM ) on chromosome 13q13; PAPA6 (OMIM ), caused by mutation in the ZNF141 gene (OMIM ) on chromosome 4p16; PAPA7 (OMIM ), caused by mutation in the IQCE gene (OMIM ) on chromosome 7p22; and PAPA8 (OMIM ), caused by mutation in the GLI1 gene (OMIM ) on chromosome 12q13.

POSTAXIAL POLYDACTYLY TYPE A Is also known as postaxial polydactyly, type a|papa|polydactyly, postaxial

Related symptoms:

  • Syndactyly
  • Polydactyly
  • Abnormality of the foot
  • Postaxial polydactyly
  • Postaxial hand polydactyly


SOURCES: OMIM ORPHANET MENDELIAN

More info about POSTAXIAL POLYDACTYLY TYPE A

Low match HARLEQUIN ICHTHYOSIS


Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI; see this term). It is characterized at birth by the presence of large, thick, plate-like scales over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma.

HARLEQUIN ICHTHYOSIS Is also known as ichthyosis congenita, harlequin type|'harlequin fetus'|ichthyosis congenita, harlequin fetus type|harlequin ichthyosis|ichthyosis fetalis, harlequin type|hi

Related symptoms:

  • Global developmental delay
  • Cataract
  • Respiratory insufficiency
  • Recurrent respiratory infections
  • Respiratory failure


SOURCES: OMIM ORPHANET MENDELIAN

More info about HARLEQUIN ICHTHYOSIS

Low match HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4; HNFJ4


Related symptoms:

  • Short stature
  • Growth delay
  • Cleft palate
  • Cognitive impairment
  • Anemia


SOURCES: OMIM MENDELIAN

More info about HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4; HNFJ4

Low match POLYDACTYLY, POSTAXIAL, TYPE A8; PAPA8


Postaxial polydactyly type 8A is characterized by the presence of postaxial extra digits (hexadactyly) on the hands and/or the feet. The anomalous digits are well formed and have nails (Palencia-Campos et al., 2017).For a discussion of genetic heterogeneity of postaxial polydactyly, see {174200}.

Related symptoms:

  • Short stature
  • Atrial septal defect
  • Polydactyly
  • Genu valgum
  • Postaxial polydactyly


SOURCES: OMIM MENDELIAN

More info about POLYDACTYLY, POSTAXIAL, TYPE A8; PAPA8

Low match BARDET-BIEDL SYNDROME 7; BBS7


BBS7 is an autosomal recessive disorder characterized by retinitis pigmentosa, postaxial polydactyly, mental retardation, obesity, renal anomalies, and hypogenitalism (Harville et al., 2010). Zaghloul and Katsanis (2009) estimated the contribution of BBS7 gene mutations to the total BBS mutational load to be 1.50%.For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Obesity
  • Rod-cone dystrophy
  • Hypogonadism
  • Polydactyly


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 7; BBS7

Low match HYPOPLASTIC TIBIAE-POSTAXIAL POLYDACTYLY SYNDROME


Hypoplastic tibia-polydactyly syndrome is a very rare congenital malformation syndrome characterized by bilateral hypoplasia of the tibia with polydactyly of the feet and hands.

HYPOPLASTIC TIBIAE-POSTAXIAL POLYDACTYLY SYNDROME Is also known as werner mesomelic syndrome

Related symptoms:

  • Short stature
  • Clinodactyly of the 5th finger
  • Camptodactyly of finger
  • Finger syndactyly
  • Limitation of joint mobility


SOURCES: ORPHANET MENDELIAN

More info about HYPOPLASTIC TIBIAE-POSTAXIAL POLYDACTYLY SYNDROME

Top 5 symptoms//phenotypes associated to Arthritis and Postaxial hand polydactyly

Symptoms // Phenotype % cases
Polydactyly Common - Between 50% and 80% cases
Postaxial polydactyly Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Osteoarthritis Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Arthritis and Postaxial hand polydactyly. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis

Rare Symptoms - Less than 30% cases


Cleft palate Global developmental delay Triphalangeal thumb Proptosis Bifid uvula Short tibia Hallux valgus Abnormality of the kidney Clinodactyly of the 5th finger Limitation of joint mobility Atrial septal defect Preaxial polydactyly Dilatation Genu valgum Talipes equinovarus Growth delay Brachydactyly Abnormality of the skeletal system Hernia Pectus carinatum Arthralgia Cataract Respiratory insufficiency Recurrent respiratory infections Respiratory failure Hyperkeratosis Pectus excavatum Rigidity Leukemia Broad thumb Small for gestational age Ichthyosis Everted lower lip vermilion Ascending aortic dissection Sepsis Pain Long thorax Sudden cardiac death Cystic medial necrosis Multiple suture craniosynostosis Biconvex vertebral bodies Chronic lymphatic leukemia Lymphoma Bicuspid pulmonary valve Adducted thumb Mild short stature Broad hallux Abnormality of digit Generalized arterial tortuosity Lymphoproliferative disorder T-cell lymphoma Abnormality of the foot Short 2nd finger Descending thoracic aorta aneurysm Pulmonary artery aneurysm Abnormal facial shape Hyperhidrosis Broad phalanges of the 5th finger Neoplasm Syndactyly Patellar dislocation Self-injurious behavior Premature birth Obesity Renal cyst Chronic kidney disease Focal segmental glomerulosclerosis Hyperuricemia Gout Elevated serum creatinine Velopharyngeal insufficiency Nail dysplasia Bilateral postaxial polydactyly Rod-cone dystrophy Hematuria Hypogonadism External genital hypoplasia Camptodactyly of finger Finger syndactyly Bowing of the long bones Preaxial hand polydactyly Aplasia/Hypoplasia of the thumb Depressed nasal tip Abnormality of fibula morphology Increased fibular diameter Neutropenia Nephropathy Dehydration Malignant hyperthermia Depressed nasal ridge Thickened skin Recurrent skin infections Hand polydactyly Ectropion Unilateral ptosis Erythroderma Short finger Congenital ichthyosiform erythroderma Foot polydactyly Hearing abnormality Postnatal growth retardation Lack of skin elasticity Congenital nonbullous ichthyosiform erythroderma Hypergranulosis Eclabion Cognitive impairment Anemia Hypertension Intrauterine growth retardation Recurrent infections Proteinuria Dural ectasia Dilatation of the cerebral artery Arterial tortuosity Pes valgus Metatarsus adductus Prolonged neonatal jaundice Short humerus Fibular hypoplasia Dysostosis multiplex Short femur Short 1st metacarpal Constrictive median neuropathy Aplasia/Hypoplasia of the patella Aplasia/Hypoplasia involving the metacarpal bones Short middle phalanx of finger Short digit Acromesomelia Aplasia/Hypoplasia of metatarsal bones Valgus hand deformity Hypertelorism Micrognathia Ptosis High palate Myopia Hypoplasia of the ulna Heart murmur Frontal bossing Talipes Hearing impairment Flexion contracture Edema Kyphosis Inguinal hernia Severe short stature Umbilical hernia Jaundice Hepatosplenomegaly Paresthesia Hypoplasia of the radius Hirsutism Short foot Macroglossia Limb undergrowth Abnormality of the ribs Short phalanx of finger Hydrops fetalis Aortic regurgitation Disproportionate short-limb short stature Recurrent upper respiratory tract infections Downslanted palpebral fissures Hydrocephalus Thoracic aortic aneurysm Abnormality of the sternum Joint dislocation Microretrognathia Bicuspid aortic valve Arnold-Chiari malformation Ectopia lentis Aortic aneurysm Myopathic facies Disproportionate tall stature Atrophic scars Aortic root aneurysm Joint contracture of the hand Rhinitis Scaphocephaly Soft skin Narrow nose High anterior hairline Spondylolisthesis Sagittal craniosynostosis Long toe Dermal translucency Ascending tubular aorta aneurysm Finger clinodactyly Exotropia Malar flattening Camptodactyly Hypospadias Clinodactyly Patent ductus arteriosus Posteriorly rotated ears Kyphoscoliosis Retrognathia Skeletal dysplasia Pes planus Joint laxity Craniosynostosis Mitral regurgitation Broad forehead Dolichocephaly Facial asymmetry Arachnodactyly Thin vermilion border Bruising susceptibility Asthma Eczema Mitral valve prolapse Blue sclerae Fibular duplication



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