Depressed nasal bridge, and Arthralgia

Diseases related with Depressed nasal bridge and Arthralgia

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


Top matches:

High match MULTIPLE EPIPHYSEAL DYSPLASIA DUE TO COLLAGEN 9 ANOMALY


Multiple epiphyseal dysplasia due to collagen 9 anomaly is a rare primary bone dysplasia disorder characterized by normal or mild short stature, early-onset pain and/or stiffness of the joints (mainly affecting knees but also elbows, wrists, ankles and fingers, with relative sparing of the hips) and early degenerative joint disease. Other skeletal anomalies (incl. varus or valgus deformities, osteochondritis dissecans, abnormal carpal shape, free articular bodies) and mild myopathy have also been reported.

Related symptoms:

  • Short stature
  • Muscle weakness
  • Pain
  • Depressed nasal bridge
  • Gait disturbance


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA DUE TO COLLAGEN 9 ANOMALY

High 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

High match STICKLER SYNDROME TYPE 3


Stickler syndrome type 3 is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities.

STICKLER SYNDROME TYPE 3 Is also known as stickler syndrome, vitreous type 2|stickler syndrome, beaded vitreous type|stickler syndrome, non-ocular type

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment
  • Cleft palate
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about STICKLER SYNDROME TYPE 3

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Other less relevant matches:

High 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

High match GALACTOSIALIDOSIS


Galactosialidosis is a lysosomal storage disease characterized by coarse facial features, macular ''cherry red spot'', and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form.

GALACTOSIALIDOSIS Is also known as ppca deficiency|lysosomal protective protein deficiency|goldberg syndrome|ngbe|cathepsin a deficiency|protective protein/cathepsin a deficiency|neuraminidase/beta-galactosidase expression|neuraminidase deficiency with beta-galactosidase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Ataxia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GALACTOSIALIDOSIS

High match OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA


Otospondylomegaepiphyseal dysplasia (OSMED) is an inborn error of cartilage collagen formation characterized by sensorineural hearing loss, enlarged epiphyses, skeletal dysplasia with disproportionately short limbs, vertebral body anomalies and a characteristic facies.

OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA Is also known as chondrodystrophy with sensorineural deafness|weissenbacher-zweymuller syndrome, formerly|nance-insley syndrome|osmed|nance-sweeney chondrodysplasia|wzs, formerly

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA

High match BETA-THALASSEMIA MAJOR


Beta-thalassemia (BT) major is a severe early-onset form of BT (see this term) characterized by severe anemia requiring regular red blood cell transfusions.

BETA-THALASSEMIA MAJOR Is also known as cooley anemia|mediterranean anemia

Related symptoms:

  • Hearing impairment
  • Muscle weakness
  • Cataract
  • Anemia
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about BETA-THALASSEMIA MAJOR

High 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

High 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

High match ACHONDROPLASIA; ACH


Achondroplasia is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand (summary by Bellus et al., 1995).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: MESH OMIM MENDELIAN

More info about ACHONDROPLASIA; ACH

Top 5 symptoms//phenotypes associated to Depressed nasal bridge and Arthralgia

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Osteoarthritis Common - Between 50% and 80% cases
Midface retrusion Common - Between 50% and 80% cases
Micromelia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Depressed nasal bridge and Arthralgia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Severe short stature Skeletal dysplasia Pain Lumbar hyperlordosis Disproportionate short stature Frontal bossing Micrognathia Hyperlordosis Cleft palate Malar flattening Platyspondyly Myopia Joint stiffness Flared metaphysis Sensorineural hearing impairment Cataract Long philtrum Anteverted nares Joint hyperflexibility Abnormality of the metaphysis Abnormal form of the vertebral bodies Spondyloepiphyseal dysplasia Limb undergrowth Pierre-Robin sequence Anemia Scoliosis Growth delay Short long bone Retinal detachment Otitis media Abnormality of the skeletal system Epiphyseal dysplasia Abnormality of epiphysis morphology Hypertelorism Flexion contracture Genu valgum Genu varum Gait disturbance

Rare Symptoms - Less than 30% cases


Short femoral neck Delayed skeletal maturation Short phalanx of finger Macrocephaly Rhizomelia Glossoptosis Hip dysplasia Abnormal vitreous humor morphology Waddling gait Vitreoretinopathy Visual impairment Hepatomegaly Muscle weakness Short palm Hepatosplenomegaly Hip contracture Intellectual disability Disproportionate short-limb short stature Abnormality of the ribs Hoarse voice Depressivity Abnormality of the dentition Generalized hypotonia Bifid uvula Mild short stature Upper airway obstruction Brachydactyly Recurrent otitis media Kyphosis Back pain Short nose Limited elbow extension Abnormal facial shape Neonatal short-limb short stature Proptosis Exostoses Conductive hearing impairment Obesity Multiple epiphyseal dysplasia Osteochondritis Dissecans Abnormality of the nervous system Irregular epiphyses Cerebral calcification Spinal cord compression Strabismus Flattened epiphysis Abnormal joint morphology Glaucoma Blue sclerae Abnormality of the metacarpal bones Recurrent respiratory infections Full cheeks Pneumonia Abnormal heart morphology Kyphoscoliosis Talipes Low-set, posteriorly rotated ears Camptodactyly of finger Arthrogryposis multiplex congenita Interphalangeal joint contracture of finger Joint dislocation Abnormality of the foot Increased bone mineral density Bowing of the long bones Abnormality of the outer ear Hypoplastic frontal sinuses Abnormality of cardiovascular system morphology Amblyopia Aplasia cutis congenita Thickened calvaria Sparse eyebrow Ectopia lentis Sparse eyelashes Coxa valga Sparse and thin eyebrow Hypohidrosis Sparse scalp hair Hypoplasia of the zygomatic bone Thick lower lip vermilion High myopia Esotropia Ectodermal dysplasia Hypoplasia of the maxilla Flat face Congenital cataract Hypotrichosis Radial bowing Thick upper lip vermilion Respiratory insufficiency Irregular distal femoral epiphysis Talipes equinovarus Intrauterine growth retardation Cryptorchidism Muscular hypotonia Small distal femoral epiphysis Meningeal calcification Small proximal tibial epiphyses Wide tufts of distal phalanges Irregular proximal tibial epiphyses Hypoplastic ilia Macrodontia of permanent maxillary central incisor Calcification of falx cerebri Elbow dislocation Absent frontal sinuses Lens luxation Ulnar bowing Anhidrotic ectodermal dysplasia Concave nasal ridge Hyperextensible skin Hydrocephalus Overfolded helix Myeloid leukemia Communicating hydrocephalus Generalized joint laxity Osteopetrosis Megalencephaly Obstructive sleep apnea Abnormality of the elbow Spinal canal stenosis Neuroblastoma Tibial bowing Central apnea Bowel incontinence Chronic otitis media Abnormality of pelvic girdle bone morphology Tinnitus Infantile muscular hypotonia Sleep apnea Acanthosis nigricans Paraparesis Dysuria Abnormality of femur morphology Short toe Cervical cord compression Myelitis Spinal stenosis with reduced interpedicular distance Trident hand Limited hip extension Brain stem compression Childhood onset short-limb short stature Small foramen magnum Iritis Hypopnea Cor pulmonale Obstructive lung disease Cervical myelopathy Central sleep apnea Chronic myelogenous leukemia Thoracolumbar kyphosis Recurrent ear infections Myelopathy Hypoxemia Clonus Recurrent urinary tract infections Proximal placement of thumb Visceral angiomatosis Costal cartilage calcification Laryngotracheal stenosis Glabellar hemangioma Hypoplastic cervical vertebrae Hitchhiker thumb Cervical kyphosis Ulnar deviation of the wrist Spinal deformities Ulnar deviation of the hand Hypertrophic auricular cartilage Lethal skeletal dysplasia Symphalangism affecting the phalanges of the hand Large earlobe Thoracic dysplasia Abnormality of the clavicle Overweight Ulnar deviation of finger Short finger Cystic lesions of the pinnae Neoplasm Abnormal lung morphology Scarring Tetraparesis Epidermal acanthosis Overgrowth Lymphoma Sleep disturbance Oral cleft Confusion Leukemia Apnea Delayed speech and language development Cleft lip Rigidity Gastroesophageal reflux Weight loss Brachycephaly Ventriculomegaly Hyperreflexia Hypertension Motor delay Sparse hair Fever Hyperhidrosis Short femur Fibular overgrowth Short iliac bones Narrow vertebral interpedicular distance Narrow greater sacrosciatic notches Vertebral hypoplasia Abnormality of the abdominal wall Spondyloepimetaphyseal dysplasia Vertebral compression fractures Abnormal epiphyseal ossification Flat acetabular roof Delayed epiphyseal ossification Bell-shaped thorax Short thorax Thoracic hypoplasia Metaphyseal irregularity Metaphyseal widening Central vertebral hypoplasia Seizures Wormian bones Abnormality of the kidney Hydrops fetalis Telangiectasia Progressive neurologic deterioration Cardiomegaly Ascites Inability to walk Corneal opacity Mental deterioration Ataxia Coarse facial features Myoclonus Inguinal hernia Visual loss Hernia Thrombocytopenia Edema Coxa vara Short ribs Opacification of the corneal stroma Arthritis Abnormality of tibia morphology Joint swelling Proportionate short stature Broad hallux Growth abnormality Accelerated skeletal maturation Short thumb Ankle pain Low back pain Knee osteoarthritis Hypoplasia of the capital femoral epiphysis Small epiphyses Limitation of joint mobility Hypodontia Proximal muscle weakness Myopathy Abnormality of the knee Decreased hip abduction Round face Long fingers Abdominal distention Thin vermilion border Joint laxity Splenomegaly Short neck Abnormal metacarpal morphology Arthropathy Mitral valve prolapse Limited elbow flexion Joint hypermobility Arachnodactyly Pectus carinatum Retinopathy Pectus excavatum Abnormality of skeletal physiology Quadriceps muscle atrophy Abnormal vertebral morphology Aortic regurgitation Wide nasal bridge Pallor Pulmonary arterial hypertension Neutropenia Cirrhosis Paresthesia Delayed puberty Malabsorption Nyctalopia Anxiety Venous thrombosis Elevated hepatic transaminase Jaundice Dyspnea Hypothyroidism Diabetes mellitus Upslanted palpebral fissure Osteoporosis Skin ulcer Cholelithiasis Cardiomyopathy Abnormal hemoglobin Epicanthus High palate Low-set ears Nystagmus Malar prominence Monochromacy Hypersplenism Abnormality of the hypothalamus-pituitary axis Abnormality of the thorax Neoplasm of the liver Cardiorespiratory arrest Abnormality of the skull Increased serum ferritin Hypoparathyroidism Microcytic anemia Adrenal insufficiency Arrhythmia Feeding difficulties Hemangioma Mucopolysacchariduria Feeding difficulties in infancy Muscular hypotonia of the trunk Ventricular septal defect Decreased beta-galactosidase activity Cherry red spot of the macula Arthralgia of the hip Angiokeratoma Vacuolated lymphocytes Short metacarpal Conjunctival telangiectasia Hemophagocytosis Visceromegaly Foam cells Nonimmune hydrops fetalis Dysostosis multiplex Abnormality of the vertebral column Bulbous nose Abnormality of the skin Aplasia/Hypoplasia of the capital femoral epiphysis Enlarged joints Large tarsal bones Abnormal lacrimal duct morphology Prominent interphalangeal joints Enlarged epiphyses Premature osteoarthritis Coronal cleft vertebrae Short 5th metacarpal Beaking of vertebral bodies Depressed nasal ridge Meningocele Synostosis of carpal bones Occipital encephalocele Mixed hearing impairment Prominent supraorbital ridges Recurrent pneumonia Encephalocele Lumbar kyphosis in infancy



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