Cleft palate, and Retinal detachment

Diseases related with Cleft palate and Retinal detachment

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


Top matches:

High match STICKLER SYNDROME TYPE 2


A rare autosomal dominant syndrome caused by mutations in the COL11A1, COL11A2, and COL2A1 genes which affect the production of type II and XI collagen. It is characterized by a range of signs and symptoms including cleft palate, large tongue, small lower jaw, hearing loss, myopia, glaucoma, retinal detachment, skeletal, and joint abnormalities.

Related symptoms:

  • Sensorineural hearing impairment
  • Cleft palate
  • Cataract
  • Myopia
  • Retinopathy


SOURCES: ORPHANET MENDELIAN

More info about STICKLER SYNDROME TYPE 2

Low match STICKLER SYNDROME, TYPE V; STL5


Related symptoms:

  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate
  • Myopia


SOURCES: OMIM MENDELIAN

More info about STICKLER SYNDROME, TYPE V; STL5

Low match SNOWFLAKE VITREORETINAL DEGENERATION


Snowflake vitreoretinal degeneration (SVD) is characterised by the presence of small granular-like deposits resembling snowflakes in the retina, fibrillary vitreous degeneration and cataract. The prevalence is unknown but the disorder has been described in several families. Transmission is autosomal dominant and the causative gene has been localised to a small region on chromosome 2q36.

SNOWFLAKE VITREORETINAL DEGENERATION Is also known as snowflake vitreoretinal degeneration

Related symptoms:

  • Hearing impairment
  • Cleft palate
  • Cataract
  • Arthritis
  • Cleft lip


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SNOWFLAKE VITREORETINAL DEGENERATION

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Other less relevant 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 UVEAL COLOBOMA-CLEFT LIP AND PALATE-INTELLECTUAL DISABILITY


Uveal coloboma-cleft lip and palate-intellectual disability is characterised by coloboma of the iris, bilateral cleft lip and palate, and intellectual deficiency of varying degree. A wide variability in clinical expression is observed. Some patients also present with microphthalmia, cataract, glaucoma, ptosis, sensorineural hearing loss and haematuria. To date, 12 cases have been described from three generations of a single family. Transmission is autosomal dominant.

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Nystagmus
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about UVEAL COLOBOMA-CLEFT LIP AND PALATE-INTELLECTUAL DISABILITY

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

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 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

Top 5 symptoms//phenotypes associated to Cleft palate and Retinal detachment

Symptoms // Phenotype % cases
Cataract Common - Between 50% and 80% cases
Myopia Common - Between 50% and 80% cases
Sensorineural hearing impairment Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Osteoarthritis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cleft palate and Retinal detachment. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Vitreoretinopathy Abnormal vitreous humor morphology Platyspondyly Pierre-Robin sequence Skeletal dysplasia Glaucoma Abnormality of epiphysis morphology Micrognathia Malar flattening Arthralgia Short stature

Rare Symptoms - Less than 30% cases


Pectus excavatum Midface retrusion Intellectual disability Anteverted nares Pectus carinatum Epiphyseal dysplasia Flat face Arthropathy Glossoptosis Long philtrum Exostoses Nystagmus Joint hyperflexibility Mitral valve prolapse Genu valgum Erosive vitreoretinopathy Nyctalopia Visual impairment Cleft lip High myopia Corneal opacity Premature osteoarthritis Retinopathy Short neck Long fingers Kyphosis Spondyloepiphyseal dysplasia Bifid uvula Joint hypermobility Arachnodactyly Depressed nasal bridge Broad forehead Hyperlordosis Hypoplasia of the maxilla Narrow chest Micromelia Irregular vertebral endplates Limitation of joint mobility Amblyopia Coxa vara Short thorax Astigmatism Short nose Visual loss Proptosis Abnormality of vertebral epiphysis morphology Hypertelorism Talipes equinovarus Bilateral cleft lip and palate Scoliosis Strabismus Arthritis Retinal degeneration Chorioretinal atrophy Tractional retinal detachment Optically empty vitreous Snowflake vitreoretinal degeneration Epicanthus Blindness Retrognathia Epiphora Rhegmatogenous retinal detachment Posterior vitreous detachment Membranous vitreous appearance Ptosis Enlarged epiphyses Optic atrophy Microphthalmia Coloboma Cleft upper lip Oral cleft Iris coloboma Hematuria Chorioretinal coloboma Posterior embryotoxon Bilateral cleft lip Neural tube defect Abnormality of the eye Abnormal joint morphology Cleft soft palate Abnormal metacarpal morphology



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