Cleft palate, and Skeletal dysplasia

Diseases related with Cleft palate and Skeletal dysplasia

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


Top matches:

Low match AUTOSOMAL DOMINANT RHEGMATOGENOUS RETINAL DETACHMENT


Autosomal dominant rhegmatogenous retinal detachment is a rare, hereditary, non-syndromic form of vitreoretinopathy characterized by retinal tears due to abnormal vitreous, and commonly present refractive errors. No other signs or symptoms of Stickler syndrome is present.

AUTOSOMAL DOMINANT RHEGMATOGENOUS RETINAL DETACHMENT Is also known as stickler syndrome, type i, predominantly ocular|stickler syndrome, atypical

Related symptoms:

  • Hearing impairment
  • Cleft palate
  • Cataract
  • Visual impairment
  • Epicanthus


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT RHEGMATOGENOUS RETINAL DETACHMENT

Low match OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; OSMEDA


Otospondylomegaepiphyseal dysplasia (OSMED) is characterized by sensorineural deafness and relatively short extremities with abnormally large knees and elbows but normal total body length. The diagnostic radiologic findings are the enlarged epiphyses combined with a moderate platyspondyly, most marked in the lower thoracic region. There are no ocular abnormalities. Patients have typical facial features, including midface hypoplasia (summary by Giedion et al., 1982). Some patients have osteoarthritis (Brunner et al., 1994).

OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; OSMEDA Is also known as osmed, heterozygous|weissenbacher-zweymuller syndrome|pierre robin syndrome with fetal chondrodysplasia stickler syndrome, nonocular type, formerly|stl3, formerly|stickler syndrome, type iii, formerly|wzs

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; OSMEDA

Low match SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA


Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies.

SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA Is also known as congenital spondyloepiphyseal dysplasia|spranger-wiedemann disease|sedc

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA

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Other less relevant matches:

Low match STICKLER SYNDROME TYPE 1


Related symptoms:

  • Intellectual disability
  • Sensorineural hearing impairment
  • Cleft palate
  • Cataract
  • Myopia


SOURCES: ORPHANET MENDELIAN

More info about STICKLER SYNDROME TYPE 1

Low match AUTOSOMAL RECESSIVE STICKLER SYNDROME


Autosomal recessive Stickler syndrome is a rare type of Stickler syndrome (see this term), found in one family to date, caused by a mutation in the COL9A1 gene, and like other dominantly inherited forms of the disease manifesting with opthalmological (myopia, retinal detachment and cataracts), orofacial (micrognathia, midface hypoplasia and cleft palate) auditory (sensorineural hearing loss) and articular (epiphyseal dysplasia) symptoms

Related symptoms:

  • Short stature
  • Micrognathia
  • Sensorineural hearing impairment
  • Cleft palate
  • Cataract


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE STICKLER SYNDROME

Low match EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2; EDSSPD2


The features of Ehlers-Danlos syndrome spondylodysplastic type 2 include an aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin (Okajima et al., 1999).For a discussion of genetic heterogeneity of the spondylodysplastic type of Ehlers-Danlos syndrome, see {130070}.

EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2; EDSSPD2 Is also known as ehlers-danlos syndrome, progeroid type, 2, formerly|edsp2, formerly

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Cleft palate
  • Talipes equinovarus


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2; EDSSPD2

Low match ATELOSTEOGENESIS TYPE III


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

Low 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

Low match CZECH DYSPLASIA, METATARSAL TYPE


Czech dysplasia, metatarsal type is a form of skeletal dysplasia characterised by severe arthropathy beginning in childhood and hypoplasia/dysplasia of the third, fourth and/or fifth toes.

CZECH DYSPLASIA, METATARSAL TYPE Is also known as pseudorheumatoid dysplasia, progressive, with hypoplastic toes|spondyloepiphyseal dysplasia with precocious osteoarthritis|czech dysplasia, metatarsal type

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Cleft palate
  • Pain


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CZECH DYSPLASIA, METATARSAL TYPE

Low match MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 4


Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum.

MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 4 Is also known as med4|multiple epiphyseal dysplasia, autosomal recessive|rmed|edm4|polyepiphyseal dysplasia type 4|multiple epiphyseal dysplasia with bilayered patellae|autosomal recessive multiple epiphyseal dysplasia|multiple epiphyseal dysplasia with clubfoot

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Muscular hypotonia
  • Cleft palate


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 4

Top 5 symptoms//phenotypes associated to Cleft palate and Skeletal dysplasia

Symptoms // Phenotype % cases
Osteoarthritis Common - Between 50% and 80% cases
Platyspondyly Common - Between 50% and 80% cases
Myopia Common - Between 50% and 80% cases
Retinal detachment Common - Between 50% and 80% cases
Hearing impairment Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cleft palate and Skeletal dysplasia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Cataract Arthralgia Sensorineural hearing impairment Talipes equinovarus Short stature Epiphyseal dysplasia Malar flattening Micrognathia Scoliosis Flat face Vitreoretinopathy Abnormality of epiphysis morphology Arthropathy Midface retrusion Pectus excavatum Abnormal vitreous humor morphology Spondyloepiphyseal dysplasia

Rare Symptoms - Less than 30% cases


Long philtrum Depressed nasal bridge Short neck Limitation of joint mobility Coxa vara Flat capital femoral epiphysis Short metacarpal Pain Proptosis Flexion contracture Brachydactyly Hypoplasia of the maxilla Arthritis Mitral valve prolapse Irregular vertebral endplates Growth abnormality Generalized hypotonia Joint hyperflexibility Glaucoma Premature osteoarthritis Abnormal joint morphology Genu valgum Anteverted nares Pierre-Robin sequence Exostoses Glossoptosis Pectus carinatum Abnormality of the knee Abnormality of the skeletal system Hip subluxation Knee pain Limited elbow flexion Abnormal metacarpal morphology Long fingers Rigidity Hypoplasia of the femoral head Waddling gait Joint hypermobility Abnormality of the patella Arachnodactyly Retinopathy Tombstone-shaped proximal phalanges Widened distal phalanges Cervical segmentation defect Horizontal sacrum Hitchhiker thumb Bifid uvula Bilateral talipes equinovarus Short toe Periarticular calcification Hip dysplasia Clinodactyly of the 5th finger Knee dislocation Clinodactyly Gait disturbance Muscular hypotonia Narrow femoral neck Metaphyseal irregularity Intervertebral space narrowing Multiple epiphyseal dysplasia Short middle phalanx of finger Narrow iliac wings Mild short stature Metatarsus adductus Thoracic kyphosis Short femoral neck Short metatarsal Small hand Short finger Cervical kyphosis Sparse hair Flat acetabular roof Cleft soft palate Intellectual disability Short thorax Micromelia Narrow chest Broad forehead Hyperlordosis Kyphosis Nystagmus Hypertelorism Enlarged epiphyses High myopia Visual loss Abnormality of the eye Membranous vitreous appearance Erosive vitreoretinopathy Posterior vitreous detachment Rhegmatogenous retinal detachment Epiphora Nyctalopia Retrognathia Blindness Epicanthus Visual impairment Short nose Abnormality of vertebral epiphysis morphology Radial bowing Long upper lip Tibial bowing Prominent occiput Elbow dislocation Disproportionate short-limb short stature Sandal gap Rhizomelia Severe short stature Frontal bossing Craniofacial disproportion Advanced ossification of carpal bones Carpal synostosis Astigmatism Flared metaphysis Hyperextensible skin Cutis laxa Decreased body weight Blue sclerae Hip dislocation Osteopenia Kyphoscoliosis Prominent forehead Global developmental delay Amblyopia Double-layered patella



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