Cleft palate, and Glaucoma

Diseases related with Cleft palate and Glaucoma

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

Top matches:

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

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

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

Other less relevant matches:

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 (OMIM ), collectively known as 'dystroglycanopathies' (van Reeuwijk et al., 2005).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2; MDDGA2 Is also known as walker-warburg syndrome or muscle-eye-brain disease, pomt2-related

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2; MDDGA2

Verloes et al. (1992) described a rare variant of frontonasal dysplasia (see FND1, {136760}), designated acromelic frontonasal dysplasia (AFND), in which similar craniofacial anomalies are associated with variable central nervous system malformations and limb defects including tibial hypoplasia/aplasia, talipes equinovarus, and preaxial polydactyly of the feet.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hypertelorism
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about ACROMELIC FRONTONASAL DYSOSTOSIS; AFND

Brittle cornea syndrome is a form of Ehlers-Danlos syndrome characterized by a severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, and progression to blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility.

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about BRITTLE CORNEA SYNDROME

Acromelic frontonasal dysplasia (AFND) is a rare variant of frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nails of halluces ) malformations as well as intellectual disability. Other manifestations sometimes reported include absent olfactory bulbs, hypopituitarism and cryptorchidism.

ACROMELIC FRONTONASAL DYSPLASIA Is also known as toriello syndrome|acromelic frontonasal dysostosis|afnd

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACROMELIC FRONTONASAL DYSPLASIA

Retinoblastoma (RB) is an embryonic malignant neoplasm of retinal origin. It almost always presents in early childhood and is often bilateral. Spontaneous regression ('cure') occurs in some cases. The retinoblastoma gene (RB1) was the first tumor suppressor gene cloned. It is a negative regulator of the cell cycle through its ability to bind the transcription factor E2F (OMIM ) and repress transcription of genes required for S phase (Hanahan and Weinberg, 2000).

RETINOBLASTOMA; RB1 Is also known as rb

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Nystagmus
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about RETINOBLASTOMA; RB1

Kniest dysplasia is a severe type II collagenopathy characterized by a short trunk and limbs, prominent joints and midface hypoplasia (round face with a flat nasal root).

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about KNIEST DYSPLASIA

Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities.

WALKER-WARBURG SYNDROME Is also known as hard syndrome|cerebroocular dysplasia-muscular dystrophy syndrome|hydrocephalus, agyria, and retinal dysplasia|walker-warburg syndrome or muscle-eye-brain disease, pomt1-related|wws|hydrocephalus-agyria-retinal dysplasia syndrome|cod-md syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about WALKER-WARBURG SYNDROME

Top 5 symptoms//phenotypes associated to Cleft palate and Glaucoma

Symptoms // Phenotype % cases
Myopia Common - Between 50% and 80% cases
Cataract Common - Between 50% and 80% cases
Retinal detachment Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Ptosis Cleft upper lip Hypertelorism Scoliosis Ventriculomegaly Seizures Global developmental delay Microcephaly Cleft lip Encephalocele Abnormality of epiphysis morphology Hydrocephalus Cerebellar vermis hypoplasia Cryptorchidism Retinopathy Hypoplasia of the corpus callosum Malar flattening Agenesis of corpus callosum Depressed nasal bridge Heterotopia Flexion contracture Buphthalmos Osteoarthritis Nystagmus Proptosis Sensorineural hearing impairment Visual impairment Microphthalmia Talipes equinovarus Macrocephaly

Rare Symptoms - Less than 30% cases

Gait disturbance Congenital contracture Peters anomaly High myopia Retinal atrophy Congenital glaucoma Hypoplasia of the brainstem Congenital muscular dystrophy Pain Lissencephaly Megalocornea Severe muscular hypotonia Type II lissencephaly Pachygyria Blindness Intellectual disability, profound Polymicrogyria Cerebellar dysplasia Cerebellar cyst Choroid plexus cyst Hypopituitarism Retrocerebellar cyst Large sella turcica Parietal foramina Patellar hypoplasia Bifid nose Bifid nasal tip Preaxial foot polydactyly Upper airway obstruction Abnormality of the cerebral white matter Broad nasal tip Microcornea Telecanthus Visual loss Brachycephaly Inguinal hernia Umbilical hernia Conductive hearing impairment Abnormality of the skeletal system Wide nasal bridge Hip dislocation Motor delay Congenital cataract Short nose Muscular dystrophy Midface retrusion Spondyloepiphyseal dysplasia Mitral valve prolapse Bifid uvula Neonatal hypotonia Arachnodactyly Short stature Pectus excavatum Short neck Arthropathy Micrognathia Corneal opacity Kyphosis Short thorax Skeletal dysplasia Hyperlordosis Coxa vara Platyspondyly Bilateral cleft lip Joint hypermobility Coloboma Strabismus Cerebellar hypoplasia Elevated serum creatine phosphokinase Dilatation Intellectual disability, severe Iris coloboma Muscle weakness Generalized hypotonia Growth delay Micromelia Glossoptosis Optic atrophy Oral cleft Severe short stature Retinal calcification Pineoblastoma Tracheomalacia Joint dislocation Neuroblastic tumors Respiratory distress Depressivity Chorioretinal atrophy Hip contracture Recurrent otitis media Flared metaphysis Neonatal respiratory distress Pinealoma Rhizomelia Retrognathia Ectopia lentis Joint stiffness Round face Abnormality of the metaphysis Fibrosarcoma Iris neovascularization Ocular pain Sarcoma Myelodysplasia Neurofibromas Cellulitis Acute myeloid leukemia Uveitis Chromosome breakage Osteosarcoma Anemia of inadequate production Acute monocytic leukemia Astrocytoma Inflammatory abnormality of the eye Retinoblastoma Vitreous hemorrhage Anisocoria Pineal cyst Leiomyosarcoma Soft tissue sarcoma Leukocoria Malar rash Glioblastoma multiforme Vitreoretinopathy Burkitt lymphoma Vitritis Histiocytoma Liposarcoma Sebaceous gland carcinoma Neoplasm of the eye Hyphema Ewing sarcoma Bell-shaped thorax Rhegmatogenous retinal detachment Delayed epiphyseal ossification Optic nerve hypoplasia Microtia Anal atresia Retinal dystrophy Dandy-Walker malformation Specific learning disability Hypoplasia of penis Abnormal levels of creatine kinase in blood Hypoglycosylation of alpha-dystroglycan Renal dysplasia Anorexia Meningoencephalocele Posterior fossa cyst Atresia of the external auditory canal Hydronephrosis Remnants of the hyaloid vascular system Anophthalmia Abnormality of neuronal migration Absent septum pellucidum Occipital encephalocele Excessive daytime sleepiness Agyria Muscle fiber splitting Submucous cleft hard palate Aqueductal stenosis Abnormality of the optic nerve Retinal dysplasia Abnormal cortical gyration Protruding ear Posteriorly rotated ears Thick cerebral cortex Lumbar kyphoscoliosis Tracheal stenosis Aplasia/Hypoplasia involving the skeletal musculature Hypoplastic pelvis Disproportionate short-trunk short stature Hypoplastic ilia Enlarged joints Hypoplastic male external genitalia Coronal cleft vertebrae Enlarged thorax Lens luxation Chorioretinal dysplasia Abnormal lactate dehydrogenase activity Dumbbell-shaped long bone Splayed epiphyses Hyporeflexia Flattened, squared-off epiphyses of tubular bones Abnormal cartilage collagen Muscular hypotonia Low-set ears Macrogyria Intrauterine growth retardation Severe hydrocephalus Skeletal muscle atrophy Metatarsus valgus Abnormality of the cerebellar vermis Frontal bossing Myopathy Areflexia Increased intracranial pressure Increased susceptibility to fractures Lymphoma Widow's peak Talipes Wide nose Wide anterior fontanel Oligodontia Preaxial polydactyly Bilateral cryptorchidism Overlapping toe Bilateral talipes equinovarus Facial cleft Lipoma Broad foot Thick nail Syndactyly U-Shaped upper lip vermilion Frontal balding Midline defect of the nose Vertical clivus High palate Edema Abnormality of the dentition Hernia Osteoporosis Pes planus Myalgia Camptodactyly Polydactyly Moderate myopia Joint hyperflexibility Pectus carinatum Hematuria Chorioretinal coloboma Posterior embryotoxon Bilateral cleft lip and palate Neural tube defect Broad forehead Narrow chest Flat face Limitation of joint mobility Anteverted nares Long philtrum Arthralgia Long fingers Persistent pupillary membrane Exostoses Pierre-Robin sequence Abnormal vitreous humor morphology Abnormal metacarpal morphology Respiratory insufficiency Hypermetropia Macroglossia Aplasia/Hypoplasia of the corpus callosum Skeletal muscle hypertrophy Spinal rigidity Abnormality of the periventricular white matter Hypoplasia of the pons Pulmonic stenosis Bruising susceptibility Postural instability Aplasia/Hypoplasia of the tibia Median cleft lip Meningocele Coronal craniosynostosis Abnormal toenail morphology Calvarial skull defect Alopecia totalis Broad columella Thick nasal alae Anterior pituitary hypoplasia Median cleft palate Decreased lacrimation Dermoid cyst Hypoplasia of the olfactory bulb Sparse and thin eyebrow Midline central nervous system lipomas Abnormality of the glabella Neoplasm Abnormal facial shape Anemia Vomiting Headache Weight loss Carcinoma Skin rash Leukemia Abnormality of skin pigmentation Sparse eyelashes Hypohidrosis Recurrent fractures Shoulder dislocation Hip dysplasia Blue sclerae Congenital hip dislocation Cutis laxa Corneal dystrophy Hyperextensible skin Hallux valgus Keratoconus Soft skin Sclerocornea Corneal erosion Corneal scarring Flat cornea Large fontanelles Keratoglobus Decreased corneal thickness Abnormality of hair pigmentation Alopecia Hyperhidrosis Upslanted palpebral fissure Hyperkeratosis Wide mouth Craniosynostosis Sparse hair Short palpebral fissure Depressed nasal ridge Abnormal aldolase level


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