Arthritis, and Omphalocele

Diseases related with Arthritis and Omphalocele

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


Top matches:

Medium match CRANIO-OSTEOARTHROPATHY


Cranio-osteoarthropathy (COA) is a form of primary hypertrophic osteoarthropathy (see this term) characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis.

CRANIO-OSTEOARTHROPATHY Is also known as sdam|currarino idiopathic osteoarthropathy|currarino disease|reginato-schiapachasse syndrome

Related symptoms:

  • Ventricular septal defect
  • Headache
  • Patent ductus arteriosus
  • Constipation
  • Diabetes mellitus


SOURCES: ORPHANET OMIM MENDELIAN

More info about CRANIO-OSTEOARTHROPATHY

Medium match MELNICK-NEEDLES SYNDROME


Melnick-Needles syndrome (MNS) belongs to the otopalatodigital syndrome spectrum disorder and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems.

MELNICK-NEEDLES SYNDROME Is also known as osteodysplasty of melnick and needles|melnick-needles osteodysplasty

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about MELNICK-NEEDLES SYNDROME

Low match EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2; EDSPD2


Related symptoms:

  • Scoliosis
  • Neoplasm
  • Fever
  • Inguinal hernia
  • Arthralgia


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2; EDSPD2

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Other less relevant matches:

Low match MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE


Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia (see this term), macrocephaly and facial dysmorphism.

MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE Is also known as multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome|macrocephaly with multiple epiphyseal dysplasia and distinctive facies|mmedf

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Low-set ears
  • Motor delay
  • Macrocephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE

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 COMBINED IMMUNODEFICIENCY WITH FACIOOCULOSKELETAL ANOMALIES


Combined immunodeficiency with faciooculoskeletal anomalies is an extremely rare combined immunodeficiency disorder characterized by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral edema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia).

COMBINED IMMUNODEFICIENCY WITH FACIOOCULOSKELETAL ANOMALIES Is also known as combined immunodeficiency, facial dysmorphism, optic nerve atrophy, skeletal anomalies, and developmental delay|roifman-chitayat syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hypertelorism
  • Abnormal facial shape
  • Depressed nasal bridge


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about COMBINED IMMUNODEFICIENCY WITH FACIOOCULOSKELETAL ANOMALIES

Low match EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2; EDSCLL2


Ehlers-Danlos syndrome classic-like-2 is characterized by severe joint and skin laxity, osteoporosis involving the hips and spine, osteoarthritis, soft redundant skin that can be acrogeria-like, delayed wound healing with abnormal atrophic scarring, and shoulder, hip, knee, and ankle dislocations. Variable features include gastrointestinal and genitourinary manifestations, such as bowel rupture, gut dysmotility, cryptorchidism, and hernias; vascular complications, such as mitral valve prolapse and aortic root dilation; and skeletal anomalies (Blackburn et al., 2018).See {606408} for another classic-like EDS syndrome. For a discussion of the classification of EDS, see {130000}.

Related symptoms:

  • Micrognathia
  • Abnormal facial shape
  • Cryptorchidism
  • Ptosis
  • Abnormality of the skeletal system


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2; EDSCLL2

Low match SPONDYLOEPIMETAPHYSEAL DYSPLASIA CONGENITA, STRUDWICK TYPE


Spondyloepimetaphyseal dysplasia congenita, Strudwick type is characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).

SPONDYLOEPIMETAPHYSEAL DYSPLASIA CONGENITA, STRUDWICK TYPE Is also known as spondylometaphyseal dysplasia|semd, strudwick type|smed, type i|spondylometaepiphyseal dysplasia congenita, strudwick type|semdc|smd|smed, strudwick type|strudwick syndrome|dappled metaphysis syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA CONGENITA, STRUDWICK TYPE

Low 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

Low 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

Top 5 symptoms//phenotypes associated to Arthritis and Omphalocele

Symptoms // Phenotype % cases
Osteoarthritis Very Common - Between 80% and 100% cases
Inguinal hernia Common - Between 50% and 80% cases
Pes planus Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Bruising susceptibility Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hernia Hypertelorism Umbilical hernia Short stature Atrophic scars Hip dislocation Abnormality of the skeletal system Micrognathia Osteoporosis Hyperextensible skin Talipes equinovarus Genu valgum Joint laxity Mitral valve prolapse Pain Cleft palate Joint hypermobility Osteopenia Joint hyperflexibility Fragile skin Short neck Arthralgia Joint dislocation Soft skin Abnormal facial shape

Rare Symptoms - Less than 30% cases


Pneumonia Kyphosis Premature loss of teeth Periodontitis Depressed nasal bridge Motor delay Gait disturbance Frontal bossing Blue sclerae Hallux valgus Arachnodactyly Atrial septal defect Pectus excavatum Macrotia Scarring Dilatation Headache Gingival bleeding Pulmonic stenosis Abnormality of epiphysis morphology Poor wound healing Abnormality of the sternum Pectus carinatum Abnormality of the metaphysis Hoarse voice Ectopic kidney Short thorax Cutis laxa Neoplasm Gingival recession Mitral regurgitation Abnormal joint morphology Patent ductus arteriosus Back pain Abnormal cortical bone morphology Subarachnoid hemorrhage Striae distensae Hyperlordosis Urticaria Underdeveloped supraorbital ridges Bicuspid aortic valve Aortic regurgitation Left ventricular hypertrophy Atrial fibrillation Generalized myoclonic seizures Ventricular hypertrophy Dental malocclusion Short metacarpal Migraine Short metatarsal Cone-shaped epiphysis Combined immunodeficiency Lacrimal duct stenosis Aortic aneurysm Thin lower lip vermilion Cryptorchidism Ptosis Camptodactyly Papule Webbed neck Low posterior hairline Narrow palate High palate Redundant skin Bilateral ptosis Thoracic scoliosis Abnormality of the vasculature Immunodeficiency Fine hair Knee dislocation Hyperextensibility of the finger joints Thin skin Uterine prolapse Intervertebral disc degeneration Protrusio acetabuli Recurrent fractures Abdominal aortic aneurysm Congenital hip dislocation Wormian bones Delayed gross motor development Dural ectasia Arterial tortuosity Hip osteoarthritis Gingival overgrowth Thoracic aortic aneurysm Disproportionate tall stature Osteochondritis Dissecans Excessive wrinkled skin Subcutaneous hemorrhage Seizures Global developmental delay Wide nasal bridge Low back pain Optic atrophy Ventriculomegaly Spondylolisthesis Aortic dissection Dilatation of the cerebral artery Slender finger Thin eyebrow Squared iliac bones Hypermelanotic macule Flexion contracture Anterior rib cupping Palmoplantar cutis laxa Cigarette-paper scars Hypoplastic pubic bone Premature loss of primary teeth Narrow greater sacrosciatic notches Chronic pain Delayed pubic bone ossification C1-C2 subluxation Club-shaped proximal femur Metaphyseal dappling Mitral stenosis Edema Delayed epiphyseal ossification Abnormality of the dentition Generalized joint laxity Gingivitis Recurrent infections Erythema Autoimmunity Osteolysis Carious teeth Dermal atrophy Microdontia Skin vesicle Long nose Agenesis of permanent teeth Spondyloepimetaphyseal dysplasia Hypoplasia of the odontoid process Shoulder dislocation Limb undergrowth Ventral hernia Bursitis Tall stature Brachydactyly Myopia Respiratory distress Alveolar bone loss around teeth Severe short stature Platyspondyly Vasculitis Micromelia Flat face Retinal detachment Increased bone mineral density Protuberant abdomen Atrophy of alveolar ridges Coxa vara Hemangioma Severe periodontitis Short long bone Genu varum Abnormality of the urinary system Metaphyseal irregularity Spondyloepiphyseal dysplasia Intestinal perforation Short femoral neck Premature loss of permanent teeth Disproportionate short stature Intellectual disability Ventricular septal defect Gastroesophageal reflux Hearing impairment Clubbing of toes Absence of the sacrum Rectal abscess Exstrophy Dermoid cyst Sirenomelia Sacral lipoma Sacral meningocele Rectal fistula Cloacal exstrophy Hemisacrum Anterior sacral meningocele Presacral teratoma Hydromyelia Failure to thrive Mottled pigmentation Kyphoscoliosis Abnormal cardiac septum morphology Respiratory tract infection Hydronephrosis Conductive hearing impairment Skeletal dysplasia Retrognathia High forehead Strabismus Proptosis Prominent forehead Recurrent respiratory infections Abnormal heart morphology Respiratory insufficiency Hypertension Cyclopia Lower limb undergrowth Facial asymmetry Large fontanelles Holoprosencephaly Spina bifida occulta Type I diabetes mellitus Meningitis Spina bifida Situs inversus totalis Eczema Tracheoesophageal fistula Urinary incontinence Anal atresia Talipes Joint stiffness Diabetes mellitus Constipation Abnormality of the genitourinary system Hyperostosis Spinal deformities Abnormality of tibia morphology Bladder exstrophy Teratoma Deviation of finger Urinary retention Abnormality of the knee Neurogenic bladder Chronic constipation Transposition of the great arteries Maternal diabetes Meningocele Abnormality of the skull Lipoma Syringomyelia Joint swelling Narrow chest Short distal phalanx of finger Muscle weakness Lymphoma Ureteral stenosis Prune belly Long neck Urethral atresia Megacystis Hypoplastic facial bones Frontal hirsutism Abnormality of the pubic bone Anisospondyly Ureteral obstruction Obtuse angle of mandible Anterior concavity of thoracic vertebrae Fever Irritability Nephroblastoma Sclerosis of skull base Brain atrophy Generalized hypotonia Enlarged joints Multiple epiphyseal dysplasia Molar tooth sign on MRI Epiphyseal dysplasia Lymphedema Finger syndactyly Low-set ears Polyhydramnios Agenesis of corpus callosum Clinodactyly Obesity Malar flattening Macrocephaly Tricuspid valve prolapse Complete atrioventricular canal defect Delayed eruption of teeth Abnormality of the ribs Coxa valga Wide anterior fontanel Bowing of the long bones Recurrent otitis media Renal hypoplasia Pulmonary arterial hypertension Oligohydramnios Prominent supraorbital ridges Tetralogy of Fallot Growth hormone deficiency Intestinal malrotation Vesicoureteral reflux Nevus Full cheeks Coarse hair Melanocytic nevus Craniofacial hyperostosis Short clavicles Small face Hypoplastic pelvis Osteolytic defects of the phalanges of the hand Hypoplastic scapulae Misalignment of teeth Cone-shaped epiphyses of the phalanges of the hand Short humerus Flared metaphysis Atrioventricular canal defect Tibial bowing Limited elbow extension Long fingers Delayed cranial suture closure Thoracic hypoplasia Knee osteoarthritis



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