Low-set ears, and Osteoarthritis

Diseases related with Low-set ears and Osteoarthritis

In the following list you will find some of the most common rare diseases related to Low-set ears and Osteoarthritis that can help you solving undiagnosed cases.


Top matches:

Medium 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

Medium match METATROPIC DYSPLASIA


Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood.

METATROPIC DYSPLASIA Is also known as metatropic dwarfism

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about METATROPIC DYSPLASIA

Medium match SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS


Spondyloepimetaphyseal dysplasia with multiple dislocations is a rare genetic primary bone dysplasia disorder characterized by midface hypoplasia, short stature, generalized joint laxity, multiple joint dislocations (most frequently of knees and hips), limb malalignment (genu valgum/varum) and progressive spinal deformity (e.g. kyphosis/scoliosis). Radiography reveals distinctive slender metacarpals and metatarsals, as well as small, irregular epiphyses, metaphyseal irregularities with vertical striations, constricted femoral necks and mild platyspondyly, among others.

SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS Is also known as semd-md|semdjl2|spondyloepimetaphyseal dysplasia with joint laxity type 2|spondyloepimetaphyseal dysplasia with joint laxicity, hall type|spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type|spondyloepimetaphyseal dysplasia with multiple

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS

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Other less relevant matches:

Medium match MARSHALL SYNDROME


Marshall syndrome is a malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletal and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal dysplasia and early-onset osteoarthritis.

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Nystagmus
  • Micrognathia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MARSHALL SYNDROME

Medium match TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1


Trichorhinophalangeal syndrome type I is a malformation syndrome characterized by distinctive craniofacial and skeletal abnormalities and is inherited as an autosomal dominant (Momeni et al., 2000). TRPS I patients have sparse scalp hair, bulbous tip of the nose, long flat philtrum, thin upper vermilion border, and protruding ears. Skeletal abnormalities include cone-shaped epiphyses at the phalanges, hip malformations, and short stature.

TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1 Is also known as trps i

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1

Medium match DIASTROPHIC DWARFISM


Diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips).

DIASTROPHIC DWARFISM Is also known as diastrophic dysplasia|dd

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about DIASTROPHIC DWARFISM

Medium match OCULOCEREBRORENAL SYNDROME OF LOWE


Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure.

OCULOCEREBRORENAL SYNDROME OF LOWE Is also known as oculocerebrorenal dystrophy|phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency|oculo-cerebro-renal dystrophy|oculo-cerebro-renal syndrome|lowe disease|ocrl1|ocrl|ocr|lowe syndrome|phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency|l

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about OCULOCEREBRORENAL SYNDROME OF LOWE

Medium match METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF


cblF type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.

METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF Is also known as cobalamin, defect in lysosomal release of|cobalamin f defect|combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblf|cblf|vitamin b12 storage disease|vitamin b12 lysosomal release defect|methylmalonic aciduria due to vitamin b12-rele

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF

Medium match SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI


Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is an immunoosseous dysplasia combining the typical metaphyseal and vertebral bone lesions of spondyloenchondrodysplasia (SPENCD) with immune dysfunction and neurologic involvement. The skeletal dysplasia is characterized by radiolucent and irregular spondylar and metaphyseal lesions that represent islands of chondroid tissue within bone. The vertebral bodies show dorsally accentuated platyspondyly with disturbance of ossification. Clinical abnormalities such as short stature, rhizomelic micromelia, increased lumbar lordosis, barrel chest, facial anomalies, and clumsy movements may be present (Menger et al., 1989). Central nervous system involvement includes spasticity, mental retardation, and cerebral calcifications, and immune dysregulation ranges from autoimmunity to immunodeficiency. Neurologic and autoimmune manifestations have been observed in different combinations within a single family, suggesting that this disorder may be defined by specific radiographic features but has remarkably pleiotropic manifestations (Renella et al., 2006). Briggs et al. (2016) also noted variability in skeletal, neurologic, and immune phenotypes, which was sometimes marked between members of the same family. Classification of the EnchondromatosesIn their classification of the enchondromatoses, Spranger et al. (1978) called Ollier disease and Maffucci syndrome types I and II enchondromatosis, respectively; metachondromatosis (OMIM ), type III; and spondyloenchondrodysplasia (SPENCD), also called spondyloenchondromatosis, type IV; enchondromatosis with irregular vertebral lesions, type V; and generalized enchondromatosis, type VI. Halal and Azouz (1991) added 3 tentative categories to the 6 in the classification of Spranger et al. (1978).Pansuriya et al. (2010) suggested a new classification of enchondromatosis (multiple enchondromas).

SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI Is also known as spencd|combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia|roifman immunoskeletal syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Spasticity
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI

Medium match METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC


Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous disorder of cobalamin (cbl; vitamin B12) metabolism. The defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT ) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR ). Different forms of the disorder have been classified according to complementation groups of cells in vitro: cblC, cblD (OMIM ), cblF (OMIM ), and cblJ (OMIM ).Isolated methylmalonic acidurias have also been classified by complementation groups: MMA 'mut' (OMIM ) is caused by mutation in the MUT gene on chromosome 6p21; MMA cblA (OMIM ) is caused by mutation in the MMAA gene (OMIM ) on 4q31; and MMA cblB (OMIM ) is caused by mutation in the MMAB gene (OMIM ) on 12q24.Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of vitamin B12 (cobalamin) metabolism, with about 250 known cases (Lerner-Ellis et al., 2006). Affected individuals may have developmental, hematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings. Although considered a disease of infancy or childhood, some individuals develop symptoms in adulthood (Rosenblatt et al., 1997).

METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC Is also known as vitamin b12 metabolic defect with combined deficiency of methylmalonyl-coa mutase and homocysteine:methyltetrahydrofolate methyltransferase|methylmalonic aciduria and homocystinuria, vitamin b12-responsive|methylmalonic acidemia and homocystinuria, cblc t

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC

Top 5 symptoms//phenotypes associated to Low-set ears and Osteoarthritis

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Platyspondyly Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Low-set ears and Osteoarthritis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis Cataract Hearing impairment Cleft palate Micrognathia Muscular hypotonia Depressed nasal bridge Respiratory insufficiency Kyphosis Midface retrusion Micromelia Abnormal facial shape Kyphoscoliosis Low-set, posteriorly rotated ears Skeletal dysplasia Arthralgia Genu valgum Hip dislocation Frontal bossing Recurrent respiratory infections Thrombocytopenia Anemia Abnormality of epiphysis morphology Arthritis Thin upper lip vermilion Cerebral calcification Camptodactyly of finger Sparse scalp hair Visual impairment Congenital cataract Depressivity Abnormality of the skeletal system Ataxia Long philtrum Abnormal joint morphology Abnormality of the ribs Abnormality of the metaphysis Short finger Hypertelorism Severe short stature Joint stiffness Feeding difficulties Seizures Feeding difficulties in infancy Growth delay Joint dislocation Epiphyseal dysplasia Joint hyperflexibility Failure to thrive Nystagmus Aciduria Malar flattening Macrocephaly Acidosis

Rare Symptoms - Less than 30% cases


Sparse hair Glaucoma Hypotrichosis Hyperhomocystinemia Methylmalonic acidemia Decreased methylcobalamin Irregular epiphyses Hemolytic anemia Flat capital femoral epiphysis Cystathioninemia Cystathioninuria Abnormality of the dentition Strabismus Decreased adenosylcobalamin Decreased methionine synthase activity Reduced visual acuity Methylmalonic aciduria High palate Homocystinuria Carious teeth Juvenile rheumatoid arthritis Delayed eruption of teeth Renal insufficiency Proteinuria Malabsorption Long face Joint hypermobility Hematuria Metabolic acidosis Full cheeks Pneumonia Abnormal heart morphology Cryptorchidism Deep philtrum Narrow palate Fine hair Smooth philtrum Megaloblastic anemia Metaphyseal irregularity Protruding ear Hyperlordosis Macrotia Pain Urogenital fistula Lethargy Ectopia lentis Neutropenia Pancytopenia Psychosis Amblyopia Recurrent otitis media Rheumatoid arthritis Irregular vertebral endplates Epicanthus Muscle weakness Limb undergrowth Short nose Intellectual disability, mild Enlarged joints Anteverted nares Confusion Hypoplastic cervical vertebrae Talipes equinovarus Spondylometaphyseal dysplasia Pes planus Pectus carinatum Flexion contracture Inguinal hernia Interphalangeal joint contracture of finger Talipes Abnormal form of the vertebral bodies Obesity Brachydactyly Short long bone Short neck High forehead Hydrocephalus Motor delay Arthrogryposis multiplex congenita Diabetes insipidus Open bite Hypophosphatemia Decrease in T cell count Flat occiput Obsessive-compulsive behavior Hyponatremia Chronic otitis media Self-injurious behavior Glomerulonephritis Rickets Abnormality of the voice Dysphasia Joint swelling Congenital glaucoma Taurodontia Abnormal pupil morphology Apathy Disproportionate tall stature Buphthalmos Hyperphosphaturia Atelectasis Generalized hypopigmentation Thromboembolism Renal tubular dysfunction Periodontitis Pathologic fracture Cor pulmonale Hyperaldosteronism Gingivitis Atypical scarring of skin Patellar dislocation Multiple renal cysts Renal tubular acidosis Osteomalacia Glomerulopathy Hyperparathyroidism Myelopathy Azoospermia Hypokalemia Aggressive behavior Atrophy of the spinal cord Chronic hemolytic anemia Delayed puberty Abnormality of macular pigmentation Corneal opacity Attention deficit hyperactivity disorder Irritability Delirium Intellectual disability, moderate Vitamin B12 deficiency Everted lower lip vermilion Hypomethioninemia Anxiety Decreased methylmalonyl-CoA mutase activity Diffuse hepatic steatosis Neonatal hypotonia Deeply set eye EEG abnormality Umbilical hernia Gastroesophageal reflux Hemolytic-uremic syndrome Recurrent fractures Gastritis Joint contracture of the hand Right ventricular failure Hypercalciuria Reduced number of teeth Hypercholesterolemia Neoplasm of the skin Lacrimation abnormality Abnormality of dental enamel Aminoaciduria Nephrocalcinosis Skin ulcer Abnormal bleeding Clonus Stereotypy Nephrolithiasis Dental crowding Hypoplasia of dental enamel Subcutaneous nodule Open mouth Dehydration Increased serum lactate Hemiplegia Atherosclerosis Abnormality of the renal tubule Immunodeficiency Hepatitis Tetraplegia Arthralgia/arthritis Lymphadenopathy Abnormality of the cerebral white matter Autoimmunity Respiratory tract infection Hypothyroidism Recurrent infections Diarrhea Lumbar hyperlordosis Spasticity Hypopigmented skin patches on arms Microcephaly Hypertension Tremor Intellectual disability, severe Megaloblastic bone marrow Congestive heart failure Dementia Cerebral cortical atrophy Spastic tetraplegia Abnormal lung morphology Gait ataxia Scleroderma Tubulointerstitial fibrosis Cellular immunodeficiency Immune dysregulation Barrel-shaped chest Narrow nose Vitiligo Autoimmune thrombocytopenia Recurrent sinusitis Autoimmune hemolytic anemia Basal ganglia calcification Hypermelanotic macule Rhizomelia Progressive spastic quadriplegia Restrictive ventilatory defect Combined immunodeficiency Spastic diplegia Nephritis Systemic lupus erythematosus Metaphyseal sclerosis Encephalitis Purpura Recurrent bacterial infections Weight loss Glossitis Slurred speech Elevated serum acid phosphatase Wrist swelling Lentiglobus Abnormality of dentin Bicarbonaturia Elevated maternal serum alpha-fetoprotein Odontogenic neoplasm Finger swelling Elevated amniotic fluid alpha-fetoprotein Periventricular cysts Benign neoplasm of the central nervous system Abnormality of calcium-phosphate metabolism Dense posterior cortical cataract Chorioretinal dysplasia Oligosacchariduria Vitamin D deficiency Proximal renal tubular acidosis Anorexia Abnormality of retinal pigmentation Madelung deformity Renal Fanconi syndrome Keloids Cheilitis Hypoammonemia Developmental regression Difficulty walking Hepatic steatosis Mental deterioration Retinopathy Lower limb muscle weakness Unsteady gait Paresthesia Stomatitis Retinal degeneration Abnormality of skin pigmentation Macrocytic anemia Nephropathy Incoordination Skin rash Urinary incontinence Memory impairment Pigmentary retinopathy Abnormality of extrapyramidal motor function Pulmonary arterial hypertension Abnormality of the skin Broad-based gait Recurrent urinary tract infections Small for gestational age Microtia Mandibular prognathia Abnormality of cardiovascular system morphology Upslanted palpebral fissure Broad distal phalanx of finger Large joint dislocations Narrow vertebral interpedicular distance Laryngotracheomalacia Abnormal bone ossification Laryngeal stenosis Abnormal sacrum morphology Inspiratory stridor Spinal dysraphism Thoracolumbar kyphosis Enlarged thorax Carpal bone hypoplasia Posterior scalloping of vertebral bodies Hypoplasia of the capital femoral epiphysis Small epiphyses Generalized osteoporosis Spondyloepimetaphyseal dysplasia Upper airway obstruction Generalized joint laxity Delayed epiphyseal ossification Thoracolumbar scoliosis Soft skin Tracheomalacia Thoracic scoliosis Abnormality of the patella Slender metacarpals Flared metaphysis Hyperhidrosis High myopia Otitis media Esotropia Ectodermal dysplasia Bifid uvula Hypoplasia of the maxilla Retinal detachment Flat face Proptosis Brachycephaly Myopia Narrow femoral neck Wide nasal bridge Sensorineural hearing impairment Delayed phalangeal epiphyseal ossification Long proximal phalanx of finger Long distal phalanx of finger Slender distal phalanx of finger Caudal interpedicular narrowing Slender proximal phalanx of finger Abnormal calcification of the carpal bones Streaky metaphyseal sclerosis Delayed patellar ossification Dislocated radial head Stridor Hypohidrosis Narrow chest Rough bone trabeculation Flared iliac wings Abnormal cortical bone morphology Fetal akinesia sequence Aplasia/Hypoplasia of the lungs Hypoplasia of the odontoid process Multiple joint contractures Akinesia Short ribs Peripheral axonal neuropathy Respiratory failure Long thorax Prominent forehead Clinodactyly of the 5th finger Multiple epiphyseal dysplasia Molar tooth sign on MRI Lymphedema Brain atrophy Finger syndactyly Polyhydramnios Agenesis of corpus callosum Clinodactyly Pectus excavatum Thoracic kyphoscoliosis Abnormality of the intervertebral disk Genu varum Dumbbell-shaped metaphyses Congenital hip dislocation Nail dysplasia Broad nasal tip Wide nose Joint laxity Osteoporosis Elevated serum creatine phosphokinase Atrial septal defect Absent primary metaphyseal spongiosa Hyperplasia of the femoral trochanters Halberd-shaped pelvis Long coccyx Caudal appendage Abnormal metaphyseal vascular invasion Relatively short spine Snail-like ilia Flared humeral metaphysis Short diaphyses Flared femoral metaphysis Anisospondyly Abnormal enchondral ossification Cervical instability Severe platyspondyly Pseudoarthrosis Thick lower lip vermilion Sparse and thin eyebrow Constipation Short phalanx of finger Ulnar deviation of finger Proximal placement of thumb Overfolded helix Elbow dislocation Hyperextensible skin Disproportionate short-limb short stature Abnormality of the metacarpal bones Abnormality of the outer ear Hoarse voice Increased bone mineral density Bowing of the long bones Overweight Blue sclerae Hip dysplasia Abnormality of the foot Intrauterine growth retardation Ivory epiphyses of the distal phalanges of the hand Swelling of proximal interphalangeal joints Cone-shaped epiphyses of the proximal phalanges of the hand Chin with horizontal crease Accelerated bone age after puberty Coxa magna Abnormally low-pitched voice Hip contracture Abnormality of the clavicle Pear-shaped nose Glabellar hemangioma Hyporeflexia Areflexia Microphthalmia Behavioral abnormality Blindness Ventriculomegaly Cognitive impairment Hypertrophic auricular cartilage Cystic lesions of the pinnae Costal cartilage calcification Laryngotracheal stenosis Hitchhiker thumb Spinal cord compression Cervical kyphosis Ulnar deviation of the wrist Spinal deformities Neonatal short-limb short stature Flattened epiphysis Visceral angiomatosis Ulnar deviation of the hand Lethal skeletal dysplasia Symphalangism affecting the phalanges of the hand Large earlobe Thoracic dysplasia Cone-shaped epiphyses of the middle phalanges of the hand Thin nail Coxa valga Ulnar bowing Small proximal tibial epiphyses Wide tufts of distal phalanges Irregular distal femoral epiphysis Irregular proximal tibial epiphyses Macrodontia of permanent maxillary central incisor Calcification of falx cerebri Abnormal vitreous humor morphology Hypoplastic frontal sinuses Absent frontal sinuses Lens luxation Anhidrotic ectodermal dysplasia Small distal femoral epiphysis Concave nasal ridge Hypoplastic ilia Thick upper lip vermilion Hypoplasia of the zygomatic bone Radial bowing Vitreoretinopathy Pierre-Robin sequence Aplasia cutis congenita Thickened calvaria Sparse eyebrow Sparse eyelashes Meningeal calcification Dysarthria Pseudohypoparathyroidism Infantile muscular hypotonia Leukonychia Thin eyebrow Concave nail Spastic ataxia Slow-growing hair Avascular necrosis of the capital femoral epiphysis Spondylolisthesis Sparse lateral eyebrow Progressive spastic paraplegia Cone-shaped epiphysis Short metatarsal Scapular winging Delayed skeletal maturation Microdontia Dental malocclusion Short metacarpal Bulbous nose Paraplegia Spastic paraplegia Stroke Osteopenia Hypogonadism Posteriorly rotated ears Alopecia Thyroglossal cyst



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