Depressed nasal bridge, and Skeletal dysplasia

Diseases related with Depressed nasal bridge and Skeletal dysplasia

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

Top matches:

Craniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Depressed nasal bridge
  • Wide nasal bridge
  • Optic atrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about CRANIODIAPHYSEAL DYSPLASIA

Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly.

SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE Is also known as smd, kozlowski type

Related symptoms:

  • Short stature
  • Scoliosis
  • Growth delay
  • Depressed nasal bridge
  • Brachydactyly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GELEOPHYSIC DYSPLASIA 3; GPHYSD3

Other less relevant matches:

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

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

Atelosteogenesis III (AOIII) is a skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.

ATELOSTEOGENESIS TYPE III Is also known as aoiii|ao3|atelosteogenesis type 3

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Cleft palate
  • Depressed nasal bridge
  • Frontal bossing


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ATELOSTEOGENESIS TYPE III

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

Omodysplasia-2 (OMOD2) is a rare autosomal dominant skeletal dysplasia characterized by shortened humeri, shortened first metacarpal, and craniofacial dysmorphism. See also OMOD1 (OMIM ).

AUTOSOMAL DOMINANT OMODYSPLASIA Is also known as omodysplasia, autosomal dominant

Related symptoms:

  • Hypertelorism
  • Micrognathia
  • Cryptorchidism
  • Depressed nasal bridge
  • Frontal bossing


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT OMODYSPLASIA

Atelosteogenesis II is a lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene.

ATELOSTEOGENESIS TYPE II Is also known as ao2|de la chapelle dysplasia|atelosteogenesis type 2|neonatal osseous dysplasia i|neonatal osseous dysplasia type 1|aoii

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Cleft palate
  • Depressed nasal bridge
  • Talipes equinovarus


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ATELOSTEOGENESIS TYPE II

Otopalatodigital syndrome type 1 (OPD1) is the mildest form of otopalatodigital syndrome spectrum disorder, and is characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies.

OTOPALATODIGITAL SYNDROME TYPE 1 Is also known as opd syndrome 1|opd i syndrome|taybi syndrome

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Cleft palate
  • Depressed nasal bridge
  • Wide nasal bridge


SOURCES: ORPHANET MENDELIAN

More info about OTOPALATODIGITAL SYNDROME TYPE 1

Top 5 symptoms//phenotypes associated to Depressed nasal bridge and Skeletal dysplasia

Symptoms // Phenotype % cases
Short stature Uncommon - Between 30% and 50% cases
Frontal bossing Uncommon - Between 30% and 50% cases
Malar flattening Uncommon - Between 30% and 50% cases
Severe short stature Uncommon - Between 30% and 50% cases
Midface retrusion Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Micrognathia Osteoarthritis Cleft palate Short palm Flat acetabular roof Wide nasal bridge Elbow dislocation Arthralgia Short neck Gait disturbance Brachydactyly Scoliosis Epiphyseal dysplasia Long philtrum Limitation of joint mobility Sandal gap Waddling gait

Rare Symptoms - Less than 30% cases

Abnormal joint morphology Short thumb Cervical kyphosis Anteverted nares Lumbar hyperlordosis Hyperlordosis Abnormal facial shape Pain Respiratory failure Osteochondritis Dissecans Joint stiffness Mild short stature Micromelia Genu varum Growth abnormality Hypertelorism Pectus carinatum Disproportionate short-limb short stature Rhizomelia Hypoplasia of the maxilla Flared metaphysis Talipes equinovarus Horizontal sacrum Abnormality of epiphysis morphology Delayed skeletal maturation Hearing impairment Kyphosis Platyspondyly Exostoses Small hand Genu valgum Narrow chest Glaucoma Abnormal metacarpal morphology Myopia Pectus excavatum Abnormal vitreous humor morphology Pierre-Robin sequence Glossoptosis Arthropathy Long fingers Hitchhiker thumb Spondyloepiphyseal dysplasia Mitral valve prolapse Cervical segmentation defect Widened distal phalanges Bifid uvula Retinopathy Retinal detachment Arachnodactyly Tombstone-shaped proximal phalanges Sensorineural hearing impairment Joint hypermobility Cataract Intellectual disability Cryptorchidism Bowing of the long bones Laryngeal stenosis Mesomelic short stature Aplasia/hypoplasia of the extremities Tracheobronchomalacia Short sacroiliac notch Dumbbell-shaped femur Downslanted palpebral fissures Intellectual disability, mild Short distal phalanx of finger Increased bone mineral density Upper limb undergrowth Oligodontia Abnormality of the metacarpal bones Prominent supraorbital ridges Proximal placement of thumb Thickened calvaria Synostosis of carpal bones Anodontia Short hallux Hypoplastic frontal sinuses Abnormal vertebral segmentation and fusion Coronal cleft vertebrae Thoracic hypoplasia Abnormality of the skeletal system Short 1st metacarpal Short nose Hypospadias Micropenis Ambiguous genitalia Hypoplasia of penis Bifid scrotum Dislocated radial head Short humerus Patellar dislocation Large forehead Hypoplasia of the ulna Knee dislocation Rhizomelic arm shortening Hypoplastic distal humeri Limited elbow flexion/extension Respiratory insufficiency Abnormality of metabolism/homeostasis Talipes Pulmonary hypoplasia Patent foramen ovale Short middle phalanx of finger Bifid nasal tip Accelerated skeletal maturation Radial bowing Carpal bone hypoplasia Hypoplasia of the odontoid process Disproportionate short-trunk short stature Flared iliac wings Enlarged joints Abnormality of the rib cage Spondylometaphyseal dysplasia Aplastic clavicle Bowing of the legs Caudal appendage Irregular acetabular roof Severe carpal ossification delay Irregular, rachitic-like metaphyses Hepatomegaly Pneumonia Dyspnea Short thorax Coxa vara Bulbous nose Craniofacial hyperostosis Optic atrophy Macrocephaly Coarse facial features Conductive hearing impairment Abnormality of the ribs Hyperostosis Stenosis of the external auditory canal Diaphyseal thickening Abnormality of the face Diaphyseal sclerosis Diaphyseal dysplasia Facial hyperostosis Growth delay High forehead Kyphoscoliosis Abnormality of the foot Apnea Thick vermilion border Tibial bowing Joint swelling Arthritis Back pain Broad hallux Limited elbow extension Disproportionate short stature Proportionate short stature Abnormality of tibia morphology Knee osteoarthritis Abnormality of the knee Low back pain Decreased hip abduction Limited elbow flexion Quadriceps muscle atrophy Abnormality of skeletal physiology Prominent occiput Ankle pain Flattened epiphysis Full cheeks Subglottic stenosis Round face Limb undergrowth Mitral regurgitation Thickened skin Hoarse voice Sleep apnea Pulmonary artery stenosis Muscle weakness Hypoplasia of the capital femoral epiphysis Myopathy Proximal muscle weakness Hypodontia Hip dysplasia Multiple epiphyseal dysplasia Irregular epiphyses Small epiphyses Abnormality of the tarsal bones


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