Arthritis, and Dolichocephaly

Diseases related with Arthritis and Dolichocephaly

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


Top matches:

Medium match HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT; ADHR


Autosomal dominant hypophosphatemic rickets is characterized by isolated renal phosphate wasting, hypophosphatemia, and inappropriately normal 1,25-dihydroxyvitamin D3 (calcitriol) levels. Patients frequently present with bone pain, rickets, and tooth abscesses. In contrast to X-linked dominant hypophosphatemic rickets (XLH ), ADHR shows incomplete penetrance, variable age at onset (childhood to adult), and resolution of the phosphate-wasting defect in rare cases (Econs et al., 1997).See also hypophosphatemic bone disease (OMIM ). Genetic Heterogeneity of Hypophosphatemic RicketsOther forms of hypophosphatemic rickets include an autosomal recessive forms, i.e., ARHR1 (OMIM ), caused by mutation in the DMP1 gene (OMIM ) on chromosome 4q21, and ARHR2 (OMIM ), caused by mutation in the ENPP1 gene (OMIM ) on chromosome 6q22-q23. An X-linked dominant form (OMIM ) is caused by mutation in the PHEX gene (OMIM ), and an X-linked recessive form (OMIM ) is caused by mutation in the CLCN5 gene (OMIM ). Clinical Variability of Hypophosphatemic RicketsHypophosphatemic rickets can be caused by disorders of vitamin D metabolism or action (see VDDR1A, {264700}). A form of hypophosphatemic rickets with hypercalciuria (HHRH ) is caused by mutation in the SLC34A3 gene (OMIM ), and there is evidence that a form of hypophosphatemic rickets with hyperparathyroidism (OMIM ) may be caused by a translocation that results in an increase in alpha-klotho levels (KLOTHO ).

HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT; ADHR Is also known as vitamin d-resistant rickets, autosomal dominant|hypophosphatemia, autosomal dominant

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Pain


SOURCES: OMIM MENDELIAN

More info about HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT; ADHR

Medium match LOEYS-DIETZ SYNDROME 5; LDS5


Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS (see {609192}), no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection (summary by Bertoli-Avella et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of Loeys-Dietz syndrome, see LDS1 (OMIM ).

LOEYS-DIETZ SYNDROME 5; LDS5 Is also known as rienhoff syndrome|rnhf

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about LOEYS-DIETZ SYNDROME 5; LDS5

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

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Other less relevant matches:

Medium match MARFAN SYNDROME; MFS


A heritable disorder of fibrous connective tissue, Marfan syndrome shows striking pleiotropism and clinical variability. The cardinal features occur in 3 systems--skeletal, ocular, and cardiovascular (McKusick, 1972; Pyeritz and McKusick, 1979; Pyeritz, 1993). It shares overlapping features with congenital contractural arachnodactyly (OMIM ), which is caused by mutation in the FBN2 gene (OMIM ).Gray and Davies (1996) gave a general review. They published Kaplan-Meier survival curves for a cohort of British Marfan syndrome patients demonstrating greater survivorship in females than in males; a similar result had been reported by Murdoch et al. (1972) and by Silverman et al. (1995). Gray and Davies (1996) also proposed a grading scale for clinical comparison of the Marfan syndrome patients. The authors provided criteria for each grade and suggested uniform use of these scales may facilitate clinicomolecular correlations.

MARFAN SYNDROME; MFS Is also known as marfan syndrome, type i|mfs1

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Micrognathia
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about MARFAN SYNDROME; MFS

Low match ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE


Acromesomelic dysplasia, Maroteaux type is an autosomal recessively inherited form of acromesomelic dysplasia (see this term) characterized by severe dwarfism (adult height >120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type (see these terms).

Related symptoms:

  • Scoliosis
  • Depressed nasal bridge
  • Brachydactyly
  • Frontal bossing
  • Kyphosis


SOURCES: ORPHANET MENDELIAN

More info about ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE

Low match X-LINKED HYPOPHOSPHATEMIA


X-linked hypophosphatemia (XLH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth.

X-LINKED HYPOPHOSPHATEMIA Is also known as xlh|x-linked hypophosphatemic rickets

Related symptoms:

  • Short stature
  • Hearing impairment
  • Abnormality of the dentition
  • Craniosynostosis
  • Recurrent fractures


SOURCES: ORPHANET MENDELIAN

More info about X-LINKED HYPOPHOSPHATEMIA

Low match MULTIPLE SYNOSTOSES SYNDROME 3; SYNS3


Related symptoms:

  • Cleft palate
  • Flexion contracture
  • Syndactyly
  • Proptosis
  • Craniosynostosis


SOURCES: MESH OMIM MENDELIAN

More info about MULTIPLE SYNOSTOSES SYNDROME 3; SYNS3

Low match POLYVALVULAR HEART DISEASE SYNDROME


Polyvalvular heart disease syndrome is a recently described syndrome characterized by the combination of polyvalvular heart disease, short stature, facial anomalies and intellectual deficit.

POLYVALVULAR HEART DISEASE SYNDROME Is also known as phd syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Micrognathia
  • Ptosis
  • Low-set ears


SOURCES: ORPHANET MENDELIAN

More info about POLYVALVULAR HEART DISEASE SYNDROME

Top 5 symptoms//phenotypes associated to Arthritis and Dolichocephaly

Symptoms // Phenotype % cases
Scoliosis Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Craniosynostosis Uncommon - Between 30% and 50% cases
High palate Uncommon - Between 30% and 50% cases
Flexion contracture Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Micrognathia Mitral valve prolapse Spondylolisthesis Kyphoscoliosis Talipes equinovarus Ptosis Cleft palate Dilatation Abnormality of the sternum Hernia Intellectual disability Frontal bossing Ectopia lentis Downslanted palpebral fissures Proptosis Retrognathia Pes planus Exotropia Pectus carinatum Mitral regurgitation Osteoarthritis Arachnodactyly Long face Aortic root aneurysm

Rare Symptoms - Less than 30% cases


Aortic regurgitation Joint contracture of the hand Decreased muscle mass Reduced subcutaneous adipose tissue Tall stature Blue sclerae Hearing impairment Soft skin Camptodactyly Cystic medial necrosis Dural ectasia Thoracic aortic aneurysm Ascending tubular aorta aneurysm Dilatation of the cerebral artery Disproportionate tall stature Aortic aneurysm Joint dislocation Broad forehead Joint laxity Dental crowding Joint hyperflexibility Clinodactyly Malar flattening Abnormality of the skeletal system Myopia Arrhythmia Arterial tortuosity Overgrowth Aortic dissection Kyphosis Hyperlordosis Ascending aortic dissection Bone pain Bifid uvula Bowing of the legs Hypertelorism Pectus excavatum Hypophosphatemia Rickets Abnormality of the dentition Osteomalacia Generalized hypotonia Arthrogryposis multiplex congenita Joint hypermobility Bruising susceptibility Pain Endocarditis Tricuspid valve prolapse Protrusio acetabuli Overbite Premature osteoarthritis Hypopnea Flat cornea Abnormality of the skin Pneumothorax Prominent nose Hypertropia Pulmonic stenosis Short philtrum Microspherophakia Spontaneous pneumothorax Overjet Anisometropia Increased axial length of the globe Incisional hernia Abnormality of the pinna Hypoplasia of the musculature Recurrent fractures Homocystinuria Open bite Sleep apnea Tricuspid regurgitation Back pain Redundant skin Congenital contracture Heart murmur Hammertoe Epiphora Rocker bottom foot Large for gestational age Emphysema Restrictive ventilatory defect Low back pain Slender finger Striae distensae Megalocornea Subarachnoid hemorrhage Hypoplasia of the iris Arachnoid cyst Aortic valve stenosis Meningocele Obstructive sleep apnea Thoracic kyphosis Pulmonary artery dilatation Pulmonary edema Genu recurvatum Talipes Mitral annular calcification Osteomyelitis Fever Spontaneous abortion Broad hallux Hyperhidrosis Dry skin Hypodontia Cubitus valgus Ectodermal dysplasia Cutaneous syndactyly Broad thumb Cellulitis Vertebral wedging Toe syndactyly Syndactyly Periorbital edema Tooth abscess Conical incisor Recurrent streptococcus pneumoniae infections Enthesitis Rachitic rosary Genu varum Abnormality of dental enamel Abnormality of the metaphysis Acromesomelia Ovoid vertebral bodies Medial rotation of the medial malleolus Brachydactyly Inferior oblique muscle overaction Delayed skeletal maturation Cerebellar hypoplasia Polymicrogyria Low-set ears Overlapping fingers Cerebellar dysplasia Perisylvian polymicrogyria Externally rotated hips Depressed nasal bridge Limited interphalangeal movement Beaking of vertebral bodies Prominent forehead Joint stiffness Abnormal form of the vertebral bodies Metatarsal synostosis Bowing of the long bones Disproportionate short stature Sprengel anomaly Metacarpal synostosis Hallux varus Humeroradial synostosis Cutaneous syndactyly of toes Narrow palate Descending thoracic aorta aneurysm Elbow flexion contracture Arterial dissection Syncope Atrioventricular block Patent foramen ovale Cerebral hemorrhage Celiac disease Long palpebral fissure Hiatus hernia Broad face Cleft soft palate Graves disease Bilateral coxa valga Small for gestational age Cervical spine instability Increased arm span Global developmental delay Hydrocephalus Atrial septal defect Hypospadias Patent ductus arteriosus Clinodactyly of the 5th finger Posteriorly rotated ears Skeletal dysplasia Smooth philtrum Abnormal cardiac septum morphology Thin vermilion border Hyperparathyroidism Sensorineural hearing impairment Fatigue Carious teeth Genu valgum Delayed eruption of teeth Muscle cramps Generalized muscle weakness Coxa vara Elevated alkaline phosphatase Hypercalciuria Spinal canal stenosis Neonatal hypotonia Abnormality of the lower limb Hypophosphatemic rickets Renal phosphate wasting Growth delay Muscular hypotonia Motor delay Ventricular septal defect Midface retrusion Hyporeflexia Inguinal hernia Brachycephaly Facial asymmetry Asthma Narrow face Stroke Edema Myopathy Congestive heart failure Abnormality of cardiovascular system morphology Visual loss Pes cavus Glaucoma Gastroesophageal reflux Deeply set eye Apnea Peripheral axonal neuropathy Peripheral neuropathy High, narrow palate Retinal detachment Polyneuropathy Chest pain Dental malocclusion Esotropia Abnormality of the cardiovascular system Cardiomegaly Abnormal lung morphology Decreased body weight Amblyopia Respiratory insufficiency Cataract Postaxial hand polydactyly Narrow nose Eczema Finger clinodactyly Microretrognathia Bicuspid aortic valve Arnold-Chiari malformation Myopathic facies Hallux valgus Atrophic scars Rhinitis Scaphocephaly High anterior hairline Muscle weakness Sagittal craniosynostosis Long toe Dermal translucency Unilateral ptosis Long thorax Multiple suture craniosynostosis Pulmonary artery aneurysm Generalized arterial tortuosity Bicuspid pulmonary valve Biconvex vertebral bodies Strabismus Abnormal heart valve morphology



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Brachydactyly and Chorea, related diseases and genetic alterations Nystagmus and Cerebellar atrophy, related diseases and genetic alterations Cataract and Short distal phalanx of finger, related diseases and genetic alterations Growth delay and Hypermetropia, related diseases and genetic alterations Global developmental delay and Hemolytic anemia, related diseases and genetic alterations Peripheral neuropathy and Broad nasal tip, related diseases and genetic alterations

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