Arthritis, and Round face

Diseases related with Arthritis and Round face

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


Top matches:

Medium match MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1


Multiple epiphyseal dysplasia type 1 (MED 1) is a form of multiple epiphyseal dysplasia that is characterized by normal or mild short stature, pain in the hips and/or knees, progressive deformity of extremities and early-onset osteoarthrosis. Specific features to MED 1 include a more pronounced involvement of hip joints and gait abnormality and a shorter adult height. MED1 is allelic to pseudoachondroplasia with which it shares clinical and radiological features. The disease follows an autosomal dominant mode of transmission.

MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1 Is also known as med1|edm1|multiple epiphyseal dysplasia, comp-related|polyepiphyseal dysplasia type 1

Related symptoms:

  • Short stature
  • Brachydactyly
  • Gait disturbance
  • Severe short stature
  • Arthralgia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1

Medium match PERIPHERAL DYSOSTOSIS


Peripheral dysostosis is a rare primary bone dysplasia characterized by cone-shaped epiphyses of the phalanges, hyperextensibility and hyperflexibility of the fingers and marked delay in ossification of hand bones. Short-limbed short stature, very stubby, short fingers and toes, flat face and nose and a large skull may also be associated. There have been no further descriptions in the literature since 1980.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about PERIPHERAL DYSOSTOSIS

Medium match KNIEST DYSPLASIA


Kniest dysplasia is a severe type II collagenopathy characterized by a short trunk and limbs, prominent joints and midface hypoplasia (round face with a flat nasal root).

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Micrognathia
  • Cleft palate


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about KNIEST DYSPLASIA

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Other less relevant matches:

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

Low match MULTIPLE EPIPHYSEAL DYSPLASIA, BEIGHTON TYPE


Multiple epiphyseal dysplasia, Beighton type is a skeletal dysplasia characterized by epiphyseal dysplasia (usually mild) associated with progressive myopia, retinal thinning, crenated cataracts, conductive deafness, and stubby digits.

MULTIPLE EPIPHYSEAL DYSPLASIA, BEIGHTON TYPE Is also known as multiple epiphyseal dysplasia-myopia-deafness syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Cataract
  • Brachydactyly
  • Myopia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA, BEIGHTON TYPE

Low match GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY; GRIDHH


GRIDHH is an autosomal recessive multisystem disorder characterized by intellectual disability, poor overall growth, hypotonia, and variable liver dysfunction. Additional features, such as seizures and hearing loss, may also be present (summary by Kopajtich et al., 2016).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY; GRIDHH

Low match OSTEOGENESIS IMPERFECTA, TYPE VIII; OI8


Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility and low bone mass. Due to considerable phenotypic variability, Sillence et al. (1979) developed a classification of OI subtypes based on clinical features and disease severity: OI type I, with blue sclerae (OMIM ); perinatal lethal OI type II, also known as congenital OI (OMIM ); OI type III, a progressively deforming form with normal sclerae (OMIM ); and OI type IV, with normal sclerae (OMIM ). Most forms of OI are autosomal dominant with mutations in one of the 2 genes that code for type I collagen alpha chains, COL1A1 (OMIM ) and COL1A2 (OMIM ). Cabral et al. (2007) described a form of autosomal recessive OI, which they designated OI type VIII, characterized by white sclerae, severe growth deficiency, extreme skeletal undermineralization, and bulbous metaphyses.

OSTEOGENESIS IMPERFECTA, TYPE VIII; OI8 Is also known as oi, type viii

Related symptoms:

  • Global developmental delay
  • Scoliosis
  • Growth delay
  • Kyphosis
  • Inguinal hernia


SOURCES: OMIM MESH MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE VIII; OI8

Low match GELEOPHYSIC DYSPLASIA 3; GPHYSD3


Related symptoms:

  • Short stature
  • Abnormal facial shape
  • Depressed nasal bridge
  • Hepatomegaly
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about GELEOPHYSIC DYSPLASIA 3; GPHYSD3

Low match OSTEOGENESIS IMPERFECTA TYPE 5


Osteogenesis imperfecta type V is a moderate type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures with variable severity. OI type V is characterized by mild to moderate short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus, white sclera and no dentinogenesis imperfecta (DI; see this term).

OSTEOGENESIS IMPERFECTA TYPE 5 Is also known as oi type 5|oi, type v

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Macrocephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA TYPE 5

Low match WINCHESTER SYNDROME; WNCHRS


Winchester syndrome presents with severe osteolysis in the hands and feet and generalized osteoporosis and bone thinning, similar to multicentric osteolysis, nodulosis, and arthropathy (MONA ), but subcutaneous nodules are characteristically absent. Various additional features including coarse face, corneal opacities, gum hypertrophy, and EKG changes have been reported (summary by Zankl et al., 2007).

Related symptoms:

  • Short stature
  • Flexion contracture
  • Severe short stature
  • Osteoporosis
  • Coarse facial features


SOURCES: OMIM MENDELIAN

More info about WINCHESTER SYNDROME; WNCHRS

Top 5 symptoms//phenotypes associated to Arthritis and Round face

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Joint stiffness Uncommon - Between 30% and 50% cases
Brachydactyly 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 Round face. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Midface retrusion Osteoarthritis Severe short stature Short metacarpal Growth delay Platyspondyly Depressed nasal bridge Osteoporosis Global developmental delay Rhizomelia Anteverted nares Short nose Malar flattening Proptosis Kyphosis Generalized hypotonia Intellectual disability Narrow mouth Macrocephaly Myopia Micromelia Joint laxity Skeletal dysplasia Short phalanx of finger Joint dislocation Hyperlordosis Disproportionate short-limb short stature Epiphyseal dysplasia Spondyloepiphyseal dysplasia Osteopenia Intrauterine growth retardation

Rare Symptoms - Less than 30% cases


Glaucoma Inguinal hernia Respiratory distress Flexion contracture Cataract Conductive hearing impairment Short neck Micrognathia Arthropathy Vertebral compression fractures Abnormal facial shape Generalized osteoporosis Coxa valga Flat face Narrow chest Postnatal growth retardation Pes planus Respiratory failure Coronal cleft vertebrae Barrel-shaped chest Full cheeks Recurrent fractures Triangular face Blue sclerae Short metatarsal Wormian bones Increased susceptibility to fractures Coxa vara Limb undergrowth Motor delay Obesity Generalized joint laxity Short femoral neck Mild short stature Irregular vertebral endplates Genu varum Delayed epiphyseal ossification Waddling gait Short palm Mandibular prognathia Genu valgum Small hand Epicanthus Abnormality of the skeletal system Multiple epiphyseal dysplasia Gait disturbance Broad femoral neck Splayed fingers Subcutaneous nodule Abnormality of the liver Hydronephrosis Elevated hepatic transaminase Anonychia Gingival overgrowth Spasticity Retinal dysplasia Sensorineural hearing impairment Failure to thrive Microcephaly Retinal thinning Seizures Asteroid hyalosis Sleep apnea Medial deviation of the foot Bifid distal phalanx of the thumb Open angle glaucoma Flattened epiphysis Hypoplastic vertebral bodies Vertebral clefting Long upper lip Osteolysis involving bones of the feet Advanced ossification of carpal bones Multiple joint dislocation Large joint dislocations Advanced tarsal ossification Radioulnar dislocation Partial duplication of the distal phalanx of the hallux Phalangeal dislocation Supernumerary metacarpal bones Multiple carpal ossification centers Proximal fibular overgrowth Rheumatoid arthritis Broad first metatarsal Osteolysis Hepatic steatosis Hepatic failure CNS hypomyelination Corneal opacity Pectus excavatum Abnormality of pelvic girdle bone morphology Joint hypermobility Broad forehead Abnormality of the eye Flat acetabular roof Hepatomegaly Thin upper lip vermilion Wide nasal bridge Long philtrum Abnormality of metabolism/homeostasis Relative macrocephaly Abnormality of the dentition Pneumonia Dyspnea Apnea Bulbous nose Thick vermilion border Subglottic stenosis Mitral regurgitation Thickened skin Hoarse voice Type 1 collagen overmodification Mixed hearing impairment Cholestasis Femoral bowing Decreased liver function Pulmonary artery stenosis Hyperextensible skin Coarse facial features Hyperplastic callus formation Anterior radial head dislocation Wide anterior fontanel Dense metaphyseal bands Thin calvarium Delayed cranial suture closure Limited pronation/supination of forearm Externally rotated/abducted legs Vertebral wedging Tibial bowing Slender long bone Thin ribs Radial bowing Biconcave vertebral bodies Dentinogenesis imperfecta Dislocated radial head Decreased skull ossification Multiple prenatal fractures Short 1st metacarpal Muscular hypotonia Protuberant abdomen Fair hair Type I diabetes mellitus Accelerated skeletal maturation Increased intracranial pressure Cone-shaped epiphysis Congenital hypothyroidism Spinal canal stenosis Rhinitis Cone-shaped epiphyses of the phalanges of the hand Blue irides Red hair Underdeveloped nasal alae Chronic rhinitis Cleft palate Pain Ptosis Depressivity Retrognathia Umbilical hernia Retinopathy Hip dislocation Retinal detachment Eczema Asthma Recurrent otitis media Short fourth metatarsal Arthralgia Limitation of joint mobility Hip dysplasia Ovoid vertebral bodies Avascular necrosis of the capital femoral epiphysis Irregular epiphyses Small epiphyses Hip osteoarthritis Pseudoepiphyses Premature osteoarthritis Limited hip movement Hypoplasia of the maxilla Hypertelorism Cryptorchidism Delayed speech and language development Hypertension Hypospadias Clinodactyly of the 5th finger Diabetes mellitus Hyperactivity Autism Hypothyroidism High myopia Abnormality of the metaphysis Cystic hygroma Nail dysplasia Dilatation Clinodactyly High forehead Kyphoscoliosis Abnormality of the kidney Smooth philtrum Short distal phalanx of finger Renal cyst Abdominal distention Wide intermamillary distance Edema Depressed nasal ridge Bowing of the long bones Broad thumb Horseshoe kidney Microretrognathia Sandal gap Abnormality of the hand Metaphyseal widening Thoracic hypoplasia Congenital glaucoma Immunodeficiency Talipes equinovarus Abnormality of epiphysis morphology Tracheal stenosis Ectopia lentis Neonatal respiratory distress Flared metaphysis Short thorax Chorioretinal atrophy Hip contracture Tracheomalacia Glossoptosis Bell-shaped thorax Vitreoretinopathy Hypoplastic pelvis Abnormal cartilage collagen Disproportionate short-trunk short stature Hypoplastic ilia Enlarged joints Enlarged thorax Lens luxation Rhegmatogenous retinal detachment Dumbbell-shaped long bone Lumbar kyphoscoliosis Splayed epiphyses Flattened, squared-off epiphyses of tubular bones Osteolysis involving bones of the upper limbs



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