Cleft palate, and Blindness

Diseases related with Cleft palate and Blindness

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


Top matches:

Medium 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

Medium match HYPOSMIA-NASAL AND OCULAR HYPOPLASIA-HYPOGONADOTROPIC HYPOGONADISM SYNDROME


This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism.

HYPOSMIA-NASAL AND OCULAR HYPOPLASIA-HYPOGONADOTROPIC HYPOGONADISM SYNDROME Is also known as bosma arhinia-microphthalmia syndrome|bosma-henkin-christiansen syndrome

Related symptoms:

  • Cleft palate
  • Cataract
  • Cryptorchidism
  • Blindness
  • Microphthalmia


SOURCES: ORPHANET MENDELIAN

More info about HYPOSMIA-NASAL AND OCULAR HYPOPLASIA-HYPOGONADOTROPIC HYPOGONADISM SYNDROME

Medium match DEVELOPMENTAL MALFORMATIONS-DEAFNESS-DYSTONIA SYNDROME


Developmental malformations-deafness-dystonia syndrome is characterised by the association of midline malformations, sensory hearing loss, and a delayed-onset generalised dystonia syndrome.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DEVELOPMENTAL MALFORMATIONS-DEAFNESS-DYSTONIA SYNDROME

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Other less relevant matches:

Medium match BLEPHARO-CHEILO-ODONTIC SYNDROME


Blepharo-cheilo-odontic syndrome is an ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth.

BLEPHARO-CHEILO-ODONTIC SYNDROME Is also known as lagophthalmia with bilateral cleft lip and palate|clefting, ectropion, and conical teeth|ectropion, inferior, with cleft lip and/or palate|lagophthalmia-cleft lip and palate syndrome|bcd syndrome|blepharocheilodontic syndrome|elschnig syndrome|bcds|elschi

Related symptoms:

  • Hypertelorism
  • Neoplasm
  • Abnormal facial shape
  • Cleft palate
  • Blindness


SOURCES: ORPHANET OMIM MENDELIAN

More info about BLEPHARO-CHEILO-ODONTIC SYNDROME

Medium match RETINOBLASTOMA; RB1


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

Medium match WALKER-WARBURG SYNDROME


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

Medium match FRASER SYNDROME 1; FRASRS1


Fraser syndrome is an autosomal recessive malformation disorder characterized by cryptophthalmos, syndactyly, and abnormalities of the respiratory and urogenital tract (summary by van Haelst et al., 2008). Genetic Heterogeneity of Fraser SyndromeFraser syndrome-2 (FRASRS2) is caused by mutation in the FREM2 gene (OMIM ) on chromosome 13q13, and Fraser syndrome-3 (FRASRS3) is caused by mutation in the GRIP1 gene (OMIM ) on chromosome 12q14.See Bowen syndrome (OMIM ) for a comparable but probably distinct syndrome of multiple congenital malformations.

FRASER SYNDROME 1; FRASRS1 Is also known as cryptophthalmos with other malformations|fraser syndrome|cryptophthalmos-syndactyly syndrome

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Hypertelorism
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about FRASER SYNDROME 1; FRASRS1

Medium match MICROPHTHALMIA WITH BRAIN AND DIGIT ANOMALIES


Microphthalmia with brain and digit anomalies is characterised by anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the BMP4 gene, which has already been shown to play a role in eye development.

MICROPHTHALMIA WITH BRAIN AND DIGIT ANOMALIES Is also known as microphthalmia and pituitary anomalies|microphthalmia with brain and digit developmental anomalies|syndromic microphthalmia type 6|anophthalmia, clinical, with micrognathia, malformed ears, digital anomalies, and abnormal external genitalia|bakrania-ragge

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MICROPHTHALMIA WITH BRAIN AND DIGIT ANOMALIES

Medium match RENPENNING SYNDROME 1; RENS1


Renpenning syndrome is an X-linked mental retardation syndrome with clinically recognizable features. Affected individuals have microcephaly, short stature, small testes, and dysmorphic facies, including tall narrow face, upslanting palpebral fissures, abnormal nasal configuration, cupped ears, and short philtrum. The nose may appear long or bulbous, with overhanging columella. Less consistent manifestations include ocular colobomas, cardiac malformations, cleft palate, and anal anomalies. Stevenson et al. (2005) proposed that the various X-linked mental retardation syndromes due to PQBP1 mutations be combined under the name of Renpenning syndrome.

RENPENNING SYNDROME 1; RENS1 Is also known as mrxs3|mental retardation, x-linked, syndromic 3|shs|mental retardation, x-linked, renpenning type|golabi-ito-hall syndrome|mental retardation, x-linked 55|mental retardation, x-linked, syndromic 8|mrxs8|mrx55|mental retardation, x-linked, with spastic dip

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about RENPENNING SYNDROME 1; RENS1

Medium match OCULODENTODIGITAL DYSPLASIA


Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities.

OCULODENTODIGITAL DYSPLASIA Is also known as meyer-schwickerath syndrome|odd syndrome|oculodentoosseous dysplasia|odod|oddd syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about OCULODENTODIGITAL DYSPLASIA

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

Symptoms // Phenotype % cases
Cataract Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Microphthalmia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Cleft upper lip Hypertelorism Myopia Cryptorchidism Global developmental delay Seizures Anal atresia Finger syndactyly Iris coloboma High forehead Anophthalmia Cleft lip High palate Oral cleft Microcornea Hypospadias Coloboma Low-set ears Protruding ear Abnormal facial shape Strabismus Nystagmus Polydactyly Agenesis of corpus callosum Posteriorly rotated ears Upslanted palpebral fissure Conductive hearing impairment Growth delay Sparse hair Glaucoma Malar flattening Hydrocephalus Syndactyly Sensorineural hearing impairment Visual loss Micrognathia Visual impairment Epicanthus Renal hypoplasia Bifid uvula Clinodactyly of the 5th finger

Rare Symptoms - Less than 30% cases


Toe syndactyly Muscular hypotonia Chorioretinal coloboma Preaxial hand polydactyly Spasticity Muscle weakness Hyperreflexia Ventricular septal defect Micropenis Atrial septal defect Mandibular prognathia Macrotia Abnormality of the nervous system Camptodactyly Buphthalmos Proptosis Spastic paraplegia Paraplegia High hypermetropia Broad columella Meningoencephalocele Generalized hypotonia Optic atrophy Intrauterine growth retardation Severe muscular hypotonia Postaxial polydactyly Underdeveloped nasal alae Abnormal heart morphology Dental crowding Bilateral cleft lip Cupped ear Foot polydactyly Abnormal cortical gyration Retinal dysplasia Atresia of the external auditory canal Postaxial foot polydactyly Skeletal muscle atrophy Encephalocele Failure to thrive Retinal dystrophy Abnormality of the cerebral white matter Brachydactyly Corneal opacity Brachycephaly Cerebellar hypoplasia Intellectual disability, severe Ventriculomegaly Abnormality of the pinna Myelomeningocele Wide nasal bridge Scoliosis Submucous cleft hard palate Neoplasm Short stature Abnormality of the dentition Clinodactyly Hypothyroidism Abnormality of the eye Carious teeth Flat face Mild global developmental delay Intellectual disability, mild Cutaneous syndactyly Abnormality of vision Retinal detachment Hypoplasia of penis Reduced number of teeth Retrognathia Abnormality of the skeletal system Severe short stature Pectus excavatum Genu valgum Alopecia Pes cavus Osteoarthritis Anxiety Diabetes mellitus Short philtrum Narrow mouth Epiphora Joint stiffness Thin upper lip vermilion Hypermetropia Vertebral fusion Nyctalopia Narrow face Sprengel anomaly Prominent metopic ridge Skeletal dysplasia Spastic diplegia Mild short stature Failure to thrive in infancy Nasal speech Poor suck Cachexia Abnormality of the hair Arachnodactyly Situs inversus totalis Joint contracture of the hand Abnormality of the ribs Tetralogy of Fallot Decreased testicular size Prominent nose Triangular face Hypoplasia of the maxilla High, narrow palate Long face Bulbous nose Behavioral abnormality Cerebral atrophy Facial asymmetry Bifid scrotum Proximal placement of thumb Erosive vitreoretinopathy Aplasia/Hypoplasia of the corpus callosum Plagiocephaly Microretrognathia Abnormal vertebral morphology High myopia Nail dysplasia Single transverse palmar crease Membranous vitreous appearance Short middle phalanx of finger Craniosynostosis Inguinal hernia Cerebral cortical atrophy Hypogonadism Absent speech Midface retrusion Amblyopia Gynecomastia Anosmia Abnormality of the umbilicus Posterior vitreous detachment Broad palm Long philtrum Small scrotum Sparse lateral eyebrow Vitreoretinopathy Premature osteoarthritis Abnormal vitreous humor morphology Delayed speech and language development Feeding difficulties Rhegmatogenous retinal detachment Aplasia of the optic tract Small sella turcica Flexion contracture of thumb Uplifted earlobe Adrenal hypoplasia Orbital cyst Inferior vermis hypoplasia Female hypogonadism Abnormality of the cervical spine Anterior pituitary hypoplasia Lambdoidal craniosynostosis Anterior hypopituitarism Abnormality of the hypothalamus-pituitary axis Delayed CNS myelination Sclerocornea Microglossia Ankylosis Anteverted ears Abnormality of the thumb Premature loss of teeth Short hallux Low hanging columella Fragile nails Taurodontia Abnormality of the clavicle Hypoparathyroidism Narrow nose Median cleft lip External ear malformation Hyperactive deep tendon reflexes Abnormality of the nose Curly hair Basal ganglia calcification Metaphyseal dysplasia Narrow nasal bridge Progressive spasticity Abnormality of the ear Non-midline cleft lip Hyperostosis Aplasia/Hypoplasia of the cerebellum Cubitus valgus Abnormal cortical bone morphology Neurogenic bladder Brittle hair Cranial hyperostosis Vertebral hyperostosis 4-5 finger syndactyly Abnormality iris morphology Tooth abscess 3-4 toe syndactyly Hyperintensity of cerebral white matter on MRI Optic nerve dysplasia Aplasia/Hypoplasia of the middle phalanges of the hand Joint contracture of the 5th finger Madelung deformity Slow-growing hair Broad alveolar ridges Progressive spastic paraparesis Narrow nasal ridge Abnormal diaphysis morphology Premature loss of primary teeth Pseudohypoparathyroidism Selective tooth agenesis Trichorrhexis nodosa Short middle phalanx of the 5th finger Dry hair Hand polydactyly Preaxial polydactyly Small face Ataxia Arrhythmia Abnormality of cardiovascular system morphology Short nose Edema Anteverted nares Gait disturbance Dysarthria Cognitive impairment Ptosis Abnormal hair laboratory examination Hypoglycemia Decreased head circumference Narrow foot Round ear Phimosis Moderately short stature Macrodontia Malformed lacrimal duct Thin eyebrow Heterotaxy Abnormality of the rib cage Umbilical hernia Deeply set eye Bilateral ptosis Short palpebral fissure Spastic tetraparesis Abnormality of the fingernails Abnormality of dental enamel Spastic paraparesis Paraparesis Abnormality of the nail Lymphedema Hypoplasia of dental enamel Abnormality of the metaphysis Abnormal form of the vertebral bodies Tetraparesis Blepharophimosis Fine hair Hypotelorism Cerebral calcification Overgrowth Microdontia Palmoplantar keratoderma Paresthesia Hypotrichosis Hip dislocation Camptodactyly of finger Aplasia/Hypoplasia of the sternum Morphological abnormality of the middle ear Extension of hair growth on temples to lateral eyebrow Sebaceous gland carcinoma Neuroblastic tumors Pineoblastoma Retinal calcification Pinealoma Iris neovascularization Pineal cyst Ewing sarcoma Hyphema Neoplasm of the eye Liposarcoma Externally rotated hips Histiocytoma Vitritis Burkitt lymphoma Fibrosarcoma Glioblastoma multiforme Malar rash Leukocoria Soft tissue sarcoma Leiomyosarcoma Flexion contracture Macrocephaly Ocular pain Macroglossia Mental deterioration Small for gestational age Polymicrogyria Congenital cataract Micromelia Muscular dystrophy Neurodegeneration Microtia Retinopathy Generalized dystonia Achalasia Hydronephrosis Elevated serum creatine phosphokinase Hyporeflexia Areflexia Dilatation Myopathy Hypoplastic scapulae Hypoplasia of the corpus callosum Bulbar signs Frontal bossing Anisocoria Vitreous hemorrhage Specific learning disability Ectropion of lower eyelids Choanal atresia Vomiting Opacification of the corneal stroma Anemia Pain Oligodontia Multiple rows of eyelashes Euryblepharon Dermoid cyst Thyroid agenesis Small nail Epidermoid cyst Unilateral cleft lip Distichiasis Abnormal hair quantity Conical tooth High anterior hairline Bilateral cleft lip and palate Ectropion Abnormal eyelid morphology Headache Weight loss Retinoblastoma Cellulitis Inflammatory abnormality of the eye Hypodontia Astrocytoma Acute monocytic leukemia Anemia of inadequate production Osteosarcoma Chromosome breakage Uveitis Acute myeloid leukemia Neurofibromas Ectodermal dysplasia Myelodysplasia Sarcoma Increased intracranial pressure Anorexia Lymphoma Postural instability Abnormality of skin pigmentation Leukemia Skin rash Carcinoma Dandy-Walker malformation Intellectual disability, profound Laryngeal atresia Misalignment of teeth Choanal stenosis External genital hypoplasia Absent eyelashes Anal stenosis Facial cleft Gonadal dysgenesis Aplasia/Hypoplasia of the thumb Cutaneous finger syndactyly Absent eyebrow Clitoral hypertrophy Bicornuate uterus Abnormality of the urinary system Renal hypoplasia/aplasia Hyposmia Abdominal wall muscle weakness Oligohydramnios Ambiguous genitalia Renal agenesis Wide intermamillary distance Failure of eruption of permanent teeth Calvarial skull defect Vaginal atresia Single naris Cryptophthalmos Abnormality of the small intestine Severe T-cell immunodeficiency Wide pubic symphysis Midline nasal groove Lacrimal duct aplasia Hypoplastic superior helix Overfolded helix Aplasia/Hypoplasia of the phalanges of the hand Laryngeal web Cleft ala nasi Gonadoblastoma Difficulty in tongue movements Urethral atresia Abnormality of the nares Abnormality of the thymus Upper eyelid coloboma Laryngeal stenosis Abnormality of the anus Bilateral renal agenesis Subglottic stenosis Bilateral microphthalmos Dental malocclusion Wide nose Cerebellar vermis hypoplasia Abnormality of neuronal migration Peters anomaly Aqueductal stenosis Abnormality of the optic nerve Dystonia Megalocornea Retinal atrophy Occipital encephalocele Absent septum pellucidum Congenital glaucoma Hypoplasia of the brainstem Cerebellar dysplasia Congenital muscular dystrophy Congenital contracture Kyphosis Optic nerve hypoplasia Lissencephaly Immunodeficiency Renal dysplasia Heterotopia Pachygyria Kyphoscoliosis Muscle fiber splitting Type II lissencephaly Pulmonary hypoplasia Chorioretinal dysplasia Absent nares Abnormality of the midface Hypoplasia of the olfactory bulb Dysphagia Depressed nasal bridge Abnormal aldolase level Thick cerebral cortex Aplasia/Hypoplasia involving the skeletal musculature Hypoplastic male external genitalia Abnormal lactate dehydrogenase activity Cerebellar cyst Macrogyria Severe hydrocephalus Metatarsus valgus Abnormality of the cerebellar vermis Abnormal levels of creatine kinase in blood Hypoglycosylation of alpha-dystroglycan Posterior fossa cyst Remnants of the hyaloid vascular system Excessive daytime sleepiness Agyria Thin anteverted nares



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