Arthritis, and Craniosynostosis

Diseases related with Arthritis and Craniosynostosis

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


Top matches:

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 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

Low match CATARACT-GLAUCOMA SYNDROME


Cataract-glaucoma syndrome is characterised by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years.

Related symptoms:

  • Seizures
  • Short stature
  • Generalized hypotonia
  • Pain
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about CATARACT-GLAUCOMA SYNDROME

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Other less relevant matches:

Low match BUSCHKE-OLLENDORFF SYNDROME


Buschke-Ollendorff syndrome (BOS) is a benign disorder characterized by the association of osteopoikilosis lesions (``spotted bones'') in the skeleton and connective tissue nevi in the skin.

BUSCHKE-OLLENDORFF SYNDROME Is also known as dermatofibrosis, disseminated, with osteopoikilosis|osteopathia condensans disseminata|dermatoosteopoikilosis|dermatofibrosis lenticularis disseminata with osteopoikilosis|disseminated dermatofibrosis with osteopoikilosis

Related symptoms:

  • Short stature
  • Hearing impairment
  • Strabismus
  • Pain
  • Flexion contracture


SOURCES: ORPHANET OMIM MENDELIAN

More info about BUSCHKE-OLLENDORFF SYNDROME

Low match MUCOLIPIDOSIS TYPE III ALPHA/BETA


Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients.

MUCOLIPIDOSIS TYPE III ALPHA/BETA Is also known as ml iii|mucolipidosis type 3 alpha/beta|pseudo-hurler polydystrophy|mucolipidosis iiia|ml iii alpha/beta|ml iiia|ml 3 alpha/beta|mucolipidosis iii

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Pain


SOURCES: OMIM ORPHANET MENDELIAN

More info about MUCOLIPIDOSIS TYPE III ALPHA/BETA

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 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

Low match FLOATING-HARBOR SYNDROME


Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FLOATING-HARBOR SYNDROME

Low match HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1; PHOAR1


Primary hypertrophic osteoarthropathy is a familial disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. Secondary hypertrophic osteoarthropathy, or pulmonary hypertrophic osteoarthropathy, is a different disorder characterized by digital clubbing secondary to acquired diseases, most commonly intrathoracic neoplasm (Uppal et al., 2008).Touraine et al. (1935) recognized pachydermoperiostosis as a familial disorder with 3 clinical presentations or forms: a complete form characterized by periostosis and pachydermia; an incomplete form with bone changes but without pachydermia; and a 'forme fruste' with pachydermia and minimal skeletal changes. Genetic HeterogeneityPHOAR2 (OMIM ) is caused by mutation in the SLCO2A1 gene (OMIM ) on chromosome 3q22.1-q22.2.Families with an autosomal dominant form of primary hypertrophic osteoarthropathy have also been reported (PHOAD ).

HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1; PHOAR1 Is also known as pho, autosomal recessive|pachydermoperiostosis, autosomal recessive|pdp, autosomal recessive|touraine-solente-gole syndrome

Related symptoms:

  • Growth delay
  • Neoplasm
  • Cleft palate
  • Pain
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1; PHOAR1

Low match DIGEORGE SYNDROME; DGS


DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS ); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see {601362}). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol.

DIGEORGE SYNDROME; DGS Is also known as hypoplasia of thymus and parathyroids|chromosome 22q11.2 deletion syndrome|third and fourth pharyngeal pouch syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about DIGEORGE SYNDROME; DGS

Top 5 symptoms//phenotypes associated to Arthritis and Craniosynostosis

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Bone pain Uncommon - Between 30% and 50% cases
Pain Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Abnormality of the dentition Arthralgia Intellectual disability Global developmental delay Micrognathia Flexion contracture High palate Umbilical hernia Seizures Cleft palate Abnormal heart morphology Joint dislocation Hernia Osteoporosis Strabismus Neoplasm Abnormality of the skeletal system Joint stiffness Ptosis Hypertension Patent ductus arteriosus Recurrent fractures Osteoarthritis Atrial septal defect Posteriorly rotated ears Joint laxity Rickets Osteomalacia

Rare Symptoms - Less than 30% cases


Coarse facial features Osteopenia Mandibular prognathia Clinodactyly of the 5th finger Kyphoscoliosis Pes planus Retrognathia Specific learning disability Clubbing Blue sclerae Bifid uvula Gastroesophageal reflux Nasal speech Scleroderma Joint hyperflexibility Astigmatism Hydrocephalus Thickened skin Acne Finger clinodactyly Exotropia Dilatation Hypospadias Hypertelorism Bicuspid aortic valve Clinodactyly Wormian bones Arnold-Chiari malformation Talipes equinovarus Hallux valgus Vascular tortuosity Disproportionate tall stature Retinal vascular tortuosity Atrophic scars Seborrheic dermatitis Juvenile rheumatoid arthritis Soft skin Rheumatoid arthritis Thin vermilion border Bruising susceptibility Headache Hypothyroidism Short palpebral fissure Low-set ears Cognitive impairment Delayed speech and language development Vomiting Dolichocephaly Hydronephrosis Coarctation of aorta Abnormal facial shape Delayed skeletal maturation Proptosis Inguinal hernia Generalized hypotonia Abnormality of cardiovascular system morphology Short neck Fever Constipation Telecanthus Low posterior hairline Growth delay Hypophosphatemia Microcephaly Broad thumb Nevus Bowing of the legs Short philtrum Bulbous nose Hyperextensibility of the finger joints Abnormality of the metaphysis Skeletal dysplasia Persistent left superior vena cava Underdeveloped nasal alae Abnormal soft palate morphology Congenital pseudoarthrosis of the clavicle Broad fingertip Curved fingers Pseudoarthrosis Malabsorption Dental malocclusion Prominent nose Enlarged naris Congenital posterior urethral valve Broad nasal tip Epididymal cyst Triangular face Hypoplasia of the maxilla Small hand Downturned corners of mouth Poor speech Smooth philtrum Hirsutism Nephrocalcinosis Spinal dysraphism Otitis media Preauricular pit Lipoma Sprengel anomaly Short clavicles Proportionate short stature Celiac disease High pitched voice Impulsivity Short columella Recurrent otitis media Language impairment Trigonocephaly Long eyelashes Abnormality of the hand Short thumb Generalized hirsutism Cone-shaped epiphyses of the phalanges of the hand Interphalangeal joint contracture of finger Varicocele Tethered cord Expressive language delay Microdontia Short upper lip Abnormality of the fingernails Stiff neck Hypoplasia of penis Broad columella Abnormality of the clavicle Speech apraxia Enlarged joints 11 pairs of ribs Villous atrophy Apraxia Enuresis Short attention span Abnormality of the voice Growth hormone excess Generalized cerebral atrophy/hypoplasia Autoimmune hemolytic anemia Myelomeningocele Truncus arteriosus Sclerocornea Meningocele Hypoparathyroidism Vitiligo Bipolar affective disorder Posterior embryotoxon Autoimmune thrombocytopenia Inflammation of the large intestine Anterior segment developmental abnormality Unilateral renal agenesis Psoriasiform dermatitis Cholelithiasis Schizophrenia Purpura Hypocalcemia Spina bifida Amblyopia Renal dysplasia Primary amenorrhea Tetany Hypoplasia of the thymus Amenorrhea Conotruncal defect Parathyroid agenesis Parathyroid hypoplasia Decreased circulating parathyroid hormone level Sacral meningocele Accommodative esotropia Esophoria Right aortic arch with mirror image branching Arteria lusoria Aplasia of the thymus Abnormality of the thymus Aplasia of the uterus Abnormality of the middle ear Duodenal stenosis Perisylvian polymicrogyria Impaired T cell function Right aortic arch Alcoholism Femoral hernia Perimembranous ventricular septal defect Interrupted aortic arch Graves disease Tetralogy of Fallot Renal agenesis Mesocardia Small for gestational age Eczematoid dermatitis Hip pain Wide cranial sutures Long clavicles Clubbing of fingers Osteolytic defects of the phalanges of the hand Flushing Heart block Joint swelling Arthropathy Subperiosteal bone formation Thickened calvaria Patent foramen ovale Redundant skin Palmoplantar hyperkeratosis Large fontanelles Limitation of joint mobility Skin rash Erythema Hyperhidrosis Pectus excavatum Periostosis Anemia Chorea Abnormality of the pinna High, narrow palate Hemolytic anemia Iris coloboma Polymicrogyria Generalized tonic-clonic seizures Microtia Attention deficit hyperactivity disorder Autoimmunity Blepharophimosis Abnormality of the kidney Ventricular septal defect Cleft lip Narrow mouth Obesity Thrombocytopenia Recurrent infections Microphthalmia Immunodeficiency Behavioral abnormality Hypertonia Hypoplasia of the corpus callosum Hypermetropia Joint hypermobility Neurological speech impairment Generalized osteosclerosis Complete duplication of the distal phalanges of the hand Diffuse skin atrophy Connective tissue nevi Osteopoikilosis Abnormal bone structure Generalized limb muscle atrophy Abnormal aortic morphology Abnormal cortical bone morphology Prominent forehead Generalized hypopigmentation Atypical scarring of skin Cutaneous finger syndactyly Multiple lipomas Hyperostosis Flat occiput Hemangioma Hoarse voice Abnormal axial skeleton morphology Respiratory tract infection Abnormality of epiphysis morphology Short long bone Mucopolysacchariduria Carpal bone hypoplasia Constrictive median neuropathy Abnormality of the optic nerve Broad ribs Dysostosis multiplex Visual field defect Aortic regurgitation Retinopathy Opacification of the corneal stroma Short ribs Split hand Cardiomegaly Hip dysplasia Wide nose Retinal degeneration Corneal opacity Lymphedema Subcutaneous nodule J-shaped sella turcica Delayed eruption of teeth Spinal canal stenosis Hyperparathyroidism Hypercalciuria Elevated alkaline phosphatase Coxa vara Generalized muscle weakness Muscle cramps Genu valgum Hypophosphatemic rickets Carious teeth Fatigue Sensorineural hearing impairment Tooth abscess Enthesitis Rachitic rosary Genu varum Abnormality of dental enamel Abnormality of the lower limb Renal phosphate wasting Palmoplantar keratoderma Chondrocalcinosis Papule Myalgia Renal insufficiency Skeletal muscle atrophy Visual impairment Pulmonary insufficiency Premature loss of primary teeth Chronic pain Papilledema Feeding difficulties Premature loss of teeth Hypercalcemia Increased intracranial pressure Waddling gait Respiratory failure Brachycephaly Pneumonia Respiratory distress Shallow acetabular fossae Hyperopic astigmatism Prominent nasal bridge Hyperlordosis Excessive wrinkled skin Poor wound healing Fragile skin Hyperextensible skin Delayed gross motor development Congenital hip dislocation Hip dislocation Kyphosis Cryptorchidism Depressed nasal bridge Muscle weakness Biconvex vertebral bodies Bicuspid pulmonary valve Generalized arterial tortuosity Descending thoracic aorta aneurysm Pulmonary artery aneurysm Multiple suture craniosynostosis Subcutaneous hemorrhage Hyperreflexia Ascending aortic dissection Deeply set eye Camptodactyly of finger Wide mouth Postnatal growth retardation Feeding difficulties in infancy Intellectual disability, moderate Aggressive behavior Anxiety Conductive hearing impairment Thin upper lip vermilion Dysarthria Hyperactivity Upslanted palpebral fissure Babinski sign Intellectual disability, mild Gait disturbance Intrauterine growth retardation Wide nasal bridge Brachydactyly Cystic medial necrosis Long thorax Irregular carpal bones Camptodactyly Eczema Postaxial hand polydactyly Asthma Arachnodactyly Facial asymmetry Broad forehead Pectus carinatum Malar flattening Mitral regurgitation Frontal bossing Downslanted palpebral fissures Myopia Soft tissue swelling of interphalangeal joints Deficiency of N-acetylglucosamine-1-phosphotransferase Subperiosteal bone resorption Increased serum beta-hexosaminidase Increased serum iduronate sulfatase activity Mitral valve prolapse Joint contracture of the hand Dural ectasia High anterior hairline Unilateral ptosis Arterial tortuosity Thoracic aortic aneurysm Ascending tubular aorta aneurysm Dermal translucency Long toe Sagittal craniosynostosis Spondylolisthesis Narrow nose Microretrognathia Scaphocephaly Dilatation of the cerebral artery Rhinitis Aortic root aneurysm Abnormality of the sternum Myopathic facies Aortic aneurysm Ectopia lentis Type I truncus arteriosus



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