Abnormal facial shape, and Arthralgia

Diseases related with Abnormal facial shape and Arthralgia

In the following list you will find some of the most common rare diseases related to Abnormal facial shape and Arthralgia that can help you solving undiagnosed cases.


Top matches:

Medium match HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2; PHOAR2


Primary hypertrophic osteoarthropathy (PHO), which is also known as pachydermoperiostosis, is a rare genetic disease that affects the skin and bones. PHO is characterized by digital clubbing, periostosis, acroosteolysis, painful joint enlargement, and skin manifestations that include thickened facial skin, a thickened scalp, and coarse facial features (summary by Zhang et al., 2012).For a discussion of genetic heterogeneity of PHO, see PHOAR1 (OMIM ).

HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2; PHOAR2 Is also known as pachydermoperiostosis, autosomal recessive|pdp, autosomal recessive

Related symptoms:

  • Abnormal facial shape
  • Patent ductus arteriosus
  • Hyperhidrosis
  • Arthralgia
  • Coarse facial features


SOURCES: OMIM MENDELIAN

More info about HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2; PHOAR2

Medium match NEURALGIC AMYOTROPHY


Neuralgic amyotrophy (NA) is an uncommon disorder of the peripheral nervous system characterized by the sudden onset of extreme pain in the upper extremity followed by rapid multifocal motor weakness and atrophy and a slow recovery in months to years. NA includes both an idiopathic (INA, also known as Parsonage-Turner syndrome) and hereditary (HNA) form.

NEURALGIC AMYOTROPHY Is also known as mononeuritis multiplex with brachial predilection|acute brachial plexus neuritis|immune brachial plexus neuropathy|brachial plexus neuritis|neuralgic shoulder amyotrophy

Related symptoms:

  • Short stature
  • Muscle weakness
  • Cleft palate
  • Pain
  • Peripheral neuropathy


SOURCES: ORPHANET MENDELIAN

More info about NEURALGIC AMYOTROPHY

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

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Other less relevant matches:

Medium match FAMILIAL OSTEOCHONDRITIS DISSECANS


Familial osteochondritis dissecans is a rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence.

FAMILIAL OSTEOCHONDRITIS DISSECANS Is also known as osteochondritis dissecans and short stature|od|osteochondritis dissecans, short stature, and early-onset osteoarthritis

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about FAMILIAL OSTEOCHONDRITIS DISSECANS

Medium match MUCOLIPIDOSIS TYPE III GAMMA


Mucolipidosis type III gamma (ML 3 gamma) is a very rare lysosomal disease, that has most often been observed in the Middle East, characterized by a progressive slowing of the growth rate in early childhood; stiffness and pain in shoulders, hips, and finger joints; a gradual, mild coarsening of facial features; and by a slower progression, milder clinical course and longer life expectancy than that seen in mucolipidosis type II and mucolipidosis type III alpha/beta. Cognitive function is normal or only slightly impaired and retinitis pigmentosa has been reported in a few patients. Many survive into early adulthood, but ultimately succumb to cardiorespiratory insufficiency.

MUCOLIPIDOSIS TYPE III GAMMA Is also known as ml iii gamma|mucolipidosis type 3 gamma|mucolipidosis iii, iranian variant form|ml 3 gamma|mucolipidosis iiic|ml iiic|mucolipidosis iii, complementation group c|mucolipidosis iii, variant form

Related symptoms:

  • Global developmental delay
  • Short stature
  • Scoliosis
  • Pain
  • Flexion contracture


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MUCOLIPIDOSIS TYPE III GAMMA

Medium match SMITH-MCCORT DYSPLASIA 2; SMC2


Smith-McCort dysplasia is a rare autosomal recessive osteochondrodysplasia characterized by short trunk dwarfism with a barrel-shaped chest, rhizomelic limb shortening, and specific radiologic features including marked platyspondyly with double-humped end-plates, kyphoscoliosis, metaphyseal irregularities, laterally displaced capital femoral epiphyses, and small pelvis with a lace-like appearance of iliac crests. These clinical and radiologic features are also common to Dyggve-Melchior-Clausen syndrome (DMC ), which is distinguished from SMC by the additional feature of mental retardation (summary by Dupuis et al., 2013).For a discussion of genetic heterogeneity of Smith-McCort dysplasia, see SMC1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Pain
  • Brachydactyly
  • Myopia


SOURCES: OMIM MENDELIAN

More info about SMITH-MCCORT DYSPLASIA 2; SMC2

Medium match EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2; EDSMC2


The musculocontractural type of Ehlers-Danlos syndrome is characterized by progressive multisystem fragility-related manifestations, including joint dislocations and deformities; skin hyperextensibility, bruisability, and fragility, with recurrent large subcutaneous hematomas; cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications; and myopathy, featuring muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood, resulting in gross motor developmental delay (summary by Muller et al., 2013).For a discussion of genetic heterogeneity of the musculocontractural type of Ehlers-Danlos syndrome, see EDSMC1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Hypertelorism
  • Muscle weakness
  • Abnormal facial shape
  • Pain


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2; EDSMC2

Medium match SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHOHAT TYPE


Spondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly.

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHOHAT TYPE Is also known as semd, shohat type

Related symptoms:

  • Short stature
  • Scoliosis
  • Pain
  • Depressed nasal bridge
  • Hepatomegaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHOHAT TYPE

Medium 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

Medium match CINCA SYNDROME


Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs.

CINCA SYNDROME Is also known as multisystem inflammatory disease, neonatal-onset|nomid syndrome|iomid syndrome|infantile-onset multisystem inflammatory disease|prieur-griscelli syndrome|neonatal-onset multisystem inflammatory disease|chronic neurologic cutaneous and articular syndrome|c

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about CINCA SYNDROME

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Arthralgia

Symptoms // Phenotype % cases
Pain Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Coarse facial features Uncommon - Between 30% and 50% cases
Severe short stature Uncommon - Between 30% and 50% cases
Brachydactyly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and Arthralgia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hyperlordosis Limitation of joint mobility Genu valgum Joint stiffness Gait disturbance Frontal bossing Round face Arthritis Lumbar hyperlordosis Joint dislocation Global developmental delay Short neck

Rare Symptoms - Less than 30% cases


Arthropathy Depressed nasal bridge High palate Spondyloepiphyseal dysplasia Mild short stature Wormian bones Delayed epiphyseal ossification Skin rash Broad femoral neck Patent ductus arteriosus Pectus carinatum Pes planus Kyphosis Growth delay Abnormality of the skeletal system Joint laxity Midface retrusion Delayed skeletal maturation Myopia Skeletal dysplasia Flexion contracture Scoliosis Metaphyseal irregularity Genu varum Disproportionate short stature Joint swelling Limb undergrowth Intellectual disability Platyspondyly Limited elbow extension Short femoral neck Splenomegaly Elevated erythrocyte sedimentation rate Hepatosplenomegaly Hepatomegaly Subperiosteal bone formation Periostosis Patent foramen ovale Muscle weakness Micromelia Seborrheic dermatitis Osteolytic defects of the phalanges of the hand Short phalanx of finger Myalgia Cleft palate Clubbing Redundant skin Thickened skin Short metacarpal Waddling gait Narrow mouth Hyperhidrosis Osteoarthritis Short iliac bones Fibular overgrowth Short ribs Hyperextensible skin Central vertebral hypoplasia Abnormal epiphyseal ossification Fragile skin Adducted thumb Delayed gross motor development Neoplasm Ptosis Bilateral talipes equinovarus Hypoplasia of the musculature Narrow vertebral interpedicular distance Flat acetabular roof Hoarse voice Abnormal heart morphology Coxa vara Metaphyseal widening Flared metaphysis Thoracic hypoplasia Short thorax Bell-shaped thorax Abnormality of epiphysis morphology Vertebral compression fractures Facial hypotonia Short femur Upper airway obstruction Abnormality of the ribs Abdominal distention Thin vermilion border Joint hyperflexibility Spondyloepimetaphyseal dysplasia Abnormality of the abdominal wall Vertebral hypoplasia Narrow greater sacrosciatic notches Pectus excavatum Eczematoid dermatitis Osteoporosis Leukocytosis Lymphadenopathy Migraine Premature birth Overgrowth Meningitis Vasculitis Purpura Increased intracranial pressure Reduced bone mineral density Urticaria Progressive sensorineural hearing impairment Papule Abnormal joint morphology Amyloidosis Uveitis Juvenile rheumatoid arthritis Abnormal thrombocyte morphology Delayed closure of the anterior fontanelle Elevated C-reactive protein level Inflammatory abnormality of the eye Abnormality of neutrophils Pseudopapilledema Retrobulbar optic neuritis Nausea and vomiting EEG abnormality Osteopenia Long clavicles Erythema Large fontanelles Palmoplantar hyperkeratosis Acne Disproportionate tall stature Thickened calvaria Growth hormone excess Heart block Flushing Clubbing of fingers Wide cranial sutures Proptosis Hip pain Mitral regurgitation Hearing impairment Sensorineural hearing impairment Anemia Visual impairment Fever Macrocephaly Fatigue Edema Blindness Dental crowding Myelopathy Blue sclerae Growth abnormality Irregular epiphyses Small epiphyses Hip osteoarthritis Pseudoepiphyses Premature osteoarthritis Short fourth metatarsal Limited hip movement Short thumb Accelerated skeletal maturation Back pain Multiple epiphyseal dysplasia Broad hallux Proportionate short stature Exostoses Abnormality of tibia morphology Abnormality of the knee Low back pain Osteochondritis Dissecans Decreased hip abduction Limited elbow flexion Quadriceps muscle atrophy Avascular necrosis of the capital femoral epiphysis Generalized joint laxity Intellectual disability, mild Paresthesia Large hands Hyperostosis Folliculitis Cutis gyrata of scalp Peripheral neuropathy Skeletal muscle atrophy Respiratory insufficiency Paralysis Neurological speech impairment Sleep disturbance Ovoid vertebral bodies Polyneuropathy EMG abnormality Scapular winging Sprengel anomaly Acrocyanosis Short palm Hip dysplasia Disproportionate short-limb short stature Epiphyseal dysplasia Irregular vertebral endplates Abnormality of skeletal physiology Cardiomegaly Mitral valve prolapse Hernia Small forehead Flattened femoral head Hypertelorism Motor delay Downslanted palpebral fissures Talipes equinovarus Myopathy Long philtrum Cerebral atrophy Inguinal hernia Arthralgia of the hip Brachycephaly Telecanthus Camptodactyly Protruding ear Scarring Talipes Arachnodactyly Joint hypermobility Bruising susceptibility Generalized muscle weakness Atlantoaxial instability Broad metatarsal Aortic valve stenosis Mandibular prognathia Opacification of the corneal stroma Aortic regurgitation Abnormality of the hand Dysostosis multiplex Flared iliac wings Abnormality of the rib cage Flat capital femoral epiphysis Increased serum iduronate sulfatase activity Increased serum beta-hexosaminidase Posteriorly rotated ears Kyphoscoliosis Broad phalanx Small hand Decreased body weight Rhizomelia Short metatarsal Hypoplasia of the odontoid process Barrel-shaped chest Hypoplastic pelvis Disproportionate short-trunk short stature Thoracolumbar kyphosis Flattened epiphysis Abnormal granulocyte morphology



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