Cleft palate, and Congenital cataract

Diseases related with Cleft palate and Congenital cataract

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


Top matches:

Medium match CATARACT 46, JUVENILE-ONSET; CTRCT46


CATARACT 46, JUVENILE-ONSET; CTRCT46 Is also known as cataract, juvenile, hutterite type

Related symptoms:

  • Cleft palate
  • Cataract
  • Scarring
  • Congenital cataract
  • Aniridia


SOURCES: OMIM MESH MENDELIAN

More info about CATARACT 46, JUVENILE-ONSET; CTRCT46

Medium match CEREBROOCULOFACIOSKELETAL SYNDROME 3; COFS3


Cerebrooculofacioskeletal syndrome is a severe, progressive neurologic disorder characterized by prenatal onset of arthrogryposis, microcephaly, and growth failure. Postnatal features include severe developmental delay, congenital cataracts (in some), and marked UV sensitivity of the skin. Survival beyond 6 years of age is rare. COFS represents the severe end of the spectrum of disorders caused by mutations in nucleotide excision repair (NER) genes, with Cockayne syndrome and xeroderma pigmentosum being milder NER-related phenotypes (summary by Drury et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of cerebrooculofacioskeletal syndrome, see COFS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MESH MENDELIAN

More info about CEREBROOCULOFACIOSKELETAL SYNDROME 3; COFS3

Medium match CONGENITAL CATARACT-MICROCEPHALY-NEVUS FLAMMEUS SIMPLEX-SEVERE INTELLECTUAL DISABILITY SYNDROME


Basel-Vanagaite-Smirin-Yosef syndrome is an autosomal recessive multiple congenital anomaly disorder characterized by severely delayed psychomotor development resulting in mental retardation, as well as variable eye, brain, cardiac, and palatal abnormalities (summary by Basel-Vanagaite et al., 2015).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL CATARACT-MICROCEPHALY-NEVUS FLAMMEUS SIMPLEX-SEVERE INTELLECTUAL DISABILITY SYNDROME

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Other less relevant matches:

Medium match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2; MDDGA2


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

Medium match HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC


HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC Is also known as hyperferritinemia-cataract syndrome|hyperferritinemia, hereditary, with congenital cataracts|hhcs

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC

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 CENANI-LENZ SYNDROME


Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs.

CENANI-LENZ SYNDROME Is also known as cenani-lenz syndactyly|cenani syndactyly|syndactyly type 7|syndactyly, type vii|cenani syndactylism

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Nystagmus
  • Micrognathia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CENANI-LENZ SYNDROME

Medium match MARSHALL SYNDROME


Marshall syndrome is a malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletal and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal dysplasia and early-onset osteoarthritis.

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Nystagmus
  • Micrognathia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MARSHALL SYNDROME

Medium match RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1


Rhizomelic chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. Biochemically, plasmalogen synthesis and phytanic acid alpha-oxidation are defective. Most patients die in the first decade of life. RCDP1 is the most frequent form of RCDP (summary by Wanders and Waterham, 2005).Individuals with RCDP1, carrying mutations in the PEX7 gene, have cells of peroxisome biogenesis disorder (PBD) complementation group 11 (CG11, equivalent to CGR). For information on the history of PBD complementation groups, see {214100}. Genetic Heterogeneity of Rhizomelic Chondrodysplasia PunctataRCDP2 (OMIM ) is caused by mutation in the gene encoding acyl-CoA:dihydroxyacetonephosphate acyltransferase (GNPAT ) on chromosome 1q42. RCDP3 (OMIM ) is caused by mutation in the gene encoding alkyldihydroxyacetonephosphate synthase (alkyl-DHAP synthase) (AGPS ) on chromosome 2q31. RCDP5 (OMIM ) is caused by mutation in the gene encoding peroxisomal biogenesis factor-5 (PEX5 ) on chromosome 12p13.Whereas RCDP1 is a peroxisomal biogenesis disorder (PBD), RCDP2 and RCDP3 are classified as single peroxisome enzyme deficiencies (Waterham and Ebberink, 2012).

RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1 Is also known as pbd9|chondrodystrophia calcificans punctata|chondrodysplasia punctata, rhizomelic form|peroxisome biogenesis disorder 9|cdpr

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1

Medium match VICI SYNDROME


Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency.

VICI SYNDROME Is also known as immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum|corpus callosum agenesis-cataract-immunodeficiency syndrome|dionisi-vici-sabetta-gambarara syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about VICI SYNDROME

Top 5 symptoms//phenotypes associated to Cleft palate and Congenital cataract

Symptoms // Phenotype % cases
Cataract Very Common - Between 80% and 100% cases
Microcephaly Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases


Low-set ears Growth delay Ventriculomegaly Seizures Polymicrogyria Epicanthus Frontal bossing Short stature Hearing impairment Scoliosis Generalized hypotonia Dilatation Myopia Cerebellar hypoplasia Cleft lip Flexion contracture Depressed nasal bridge Proptosis High palate Cleft upper lip Muscle weakness Visual impairment Severe global developmental delay Intellectual disability, severe Cerebellar vermis hypoplasia Wide nasal bridge Ptosis Sensorineural hearing impairment Congenital contracture Intrauterine growth retardation Spasticity Abnormal facial shape Strabismus Glaucoma Nystagmus Heterotopia Downslanted palpebral fissures Malar flattening Microphthalmia

Rare Symptoms - Less than 30% cases


Hypoplasia of the pons Cerebellar cyst Buphthalmos Peters anomaly Type II lissencephaly Retinal atrophy Anteverted nares Cryptorchidism Myopathy Joint stiffness Protruding ear Abnormality of the cerebellar vermis Short nose Abnormal cortical gyration High, narrow palate Bifid uvula Retinal detachment Severe failure to thrive Agenesis of corpus callosum Anal atresia Long philtrum Optic atrophy Muscular hypotonia Pulmonary hypoplasia Cerebral cortical atrophy High myopia Hypoplasia of penis Convex nasal ridge Abnormality of the dentition Cerebellar dysplasia Congenital glaucoma Muscular dystrophy Concave nasal ridge Hypoplasia of the corpus callosum Hypospadias Hydronephrosis Sparse hair Short philtrum Microcornea Sparse eyebrow Respiratory insufficiency Hydrocephalus Elevated serum creatine phosphokinase Flat face Abnormality of the cerebral white matter Intellectual disability, profound Aplasia/Hypoplasia of the corpus callosum Lissencephaly Hypoplasia of the brainstem Severe muscular hypotonia Pachygyria Encephalocele Congenital muscular dystrophy Pierre-Robin sequence Calcific stippling of infantile cartilaginous skeleton Epiphyseal stippling Ulnar bowing Aplasia cutis congenita Polysplenia Delayed CNS myelination Pneumonia Anhidrotic ectodermal dysplasia Recurrent infections Multiple epiphyseal dysplasia Immunodeficiency Coronal cleft vertebrae Bilateral cleft palate Hypoplastic ilia Pregnancy exposure Vitreoretinopathy Hypertonia Failure to thrive Feeding difficulties Sparse body hair Peripheral neuropathy Hyperreflexia Respiratory distress Cardiomyopathy Thick upper lip vermilion Cerebellar atrophy Congestive heart failure Hypoplasia of the zygomatic bone Radial bowing Motor delay Spina bifida occulta Flared metaphysis Hypoplastic frontal sinuses Macrodontia of permanent maxillary central incisor Meningeal calcification Small distal femoral epiphysis Pain Atrial septal defect Abnormality of metabolism/homeostasis Irregular distal femoral epiphysis Small proximal tibial epiphyses Hernia Calcification of falx cerebri Abnormal vitreous humor morphology Alopecia Severe short stature Upslanted palpebral fissure Kyphoscoliosis Epiphyseal dysplasia Wide tufts of distal phalanges Lens luxation Irregular proximal tibial epiphyses Rhizomelia Abnormality of epiphysis morphology Abnormality of the metaphysis Rod-cone dystrophy Congenital diaphragmatic hernia Pulmonic stenosis Absent frontal sinuses Limb undergrowth Limitation of joint mobility Short distal phalanx of finger Ichthyosis Dry skin Recurrent respiratory infections Infantile muscular hypotonia Respiratory failure Renal tubular dysfunction Recurrent fungal infections Hypopigmentation of the fundus Cellular immunodeficiency Hypoplasia of the thymus Recurrent viral infections Chronic mucocutaneous candidiasis Fair hair Ocular albinism Granulocytopenia Depressed nasal tip Aspiration pneumonia IgG deficiency Severe sensorineural hearing impairment Hypopigmentation of hair Optic neuropathy Abnormality of immune system physiology Renal tubular acidosis Abnormal posturing Pontocerebellar atrophy Bronchitis Cutaneous anergy White matter neuronal heterotopia Severe T-cell immunodeficiency Penile hypospadias Immunoglobulin IgG2 deficiency Ureteral atresia Aplasia/Hypoplasia of the macula Decreased T cell activation Abnormal immunoglobulin level Abnormality of the mandible Frontoparietal polymicrogyria Schizencephaly Abnormal macular morphology Muscle flaccidity Abnormality of the thymus Abnormality of the optic disc Recurrent aspiration pneumonia Decreased proportion of CD4-positive T cells Centrally nucleated skeletal muscle fibers Macular atrophy Acidosis Thick vermilion border Decreased antibody level in blood Delayed myelination Sepsis Triangular face Hypopigmentation of the skin Neutropenia Sleep disturbance Wide nose Hypotelorism Dilated cardiomyopathy Respiratory tract infection Postnatal growth retardation Feeding difficulties in infancy Muscular hypotonia of the trunk Hypertrophic cardiomyopathy EEG abnormality Coarse facial features Narrow forehead Ventricular hypertrophy Neurodevelopmental delay Recurrent bacterial infections Combined immunodeficiency Albinism Congenital sensorineural hearing impairment Poor suck Adducted thumb Ectopia lentis Leukopenia Increased body weight Progressive neurologic deterioration Aspiration Lymphopenia Progressive microcephaly Decreased liver function Abnormality of retinal pigmentation Decreased body weight Left ventricular hypertrophy Open mouth Thickened calvaria Laryngomalacia Sparse eyelashes Areflexia Corneal opacity Microtia Retinopathy Coloboma Posteriorly rotated ears Hyporeflexia Blindness Iris coloboma Macrocephaly Skeletal muscle atrophy Pulverulent cataract Nuclear cataract Ectopic anus Abnormality of the elbow Increased serum ferritin Oral cleft Retinal dystrophy Microcytic anemia Submucous cleft hard palate Agyria Muscle fiber splitting Aqueductal stenosis Abnormality of the optic nerve Retinal dysplasia Bilateral cleft lip Megalocornea Occipital encephalocele Dandy-Walker malformation Absent septum pellucidum Abnormality of neuronal migration Anophthalmia Atresia of the external auditory canal Optic nerve hypoplasia Renal dysplasia Specific learning disability Iron deficiency anemia Non-midline cleft lip Remnants of the hyaloid vascular system Cutaneous photosensitivity Tented upper lip vermilion Nevus Everted lower lip vermilion Abnormal cardiac septum morphology Kyphosis Rocker bottom foot Decreased fetal movement Neonatal hypotonia Brain atrophy Arthrogryposis multiplex congenita Edema Talipes equinovarus Juvenile cataract Aniridia Scarring Nevus flammeus Hypermetropia Hypoplastic toenails Clinodactyly of the 5th finger Polycystic ovaries Abnormality of the fingernails Bilateral single transverse palmar creases Webbed neck Low-set, posteriorly rotated ears Photophobia Macrotia Abnormality of cardiovascular system morphology Macroglossia Short neck Anemia Moderate myopia Persistent pupillary membrane Abnormality of the periventricular white matter Spinal rigidity Skeletal muscle hypertrophy Excessive daytime sleepiness Posterior fossa cyst Coxa valga Absent toenail Abnormality of the skeletal system Synostosis of joints Crossed fused renal ectopia Bilateral renal hypoplasia Foot oligodactyly Absent fingernail Synostosis of carpal bones Depressivity Oligodactyly Congenital hypothyroidism Abnormality of digit Absent thumb Mixed hearing impairment Hypoplasia of the ulna Ectropion Midface retrusion Hyperhidrosis Radioulnar synostosis Cerebral calcification Sparse and thin eyebrow Hypohidrosis Amblyopia Recurrent otitis media Osteoarthritis Sparse scalp hair Thick lower lip vermilion Otitis media Brachycephaly Esotropia Ectodermal dysplasia Hypoplasia of the maxilla Genu valgum Hypotrichosis Platyspondyly Arthralgia Elbow dislocation Systemic lupus erythematosus Meningoencephalocele Aplasia/Hypoplasia involving the skeletal musculature Deeply set eye Retrognathia Hypothyroidism Prominent forehead Syndactyly Abnormal aldolase level Thick cerebral cortex Hypoplastic male external genitalia Finger syndactyly Chorioretinal dysplasia Abnormal lactate dehydrogenase activity Macrogyria Severe hydrocephalus Metatarsus valgus Abnormal levels of creatine kinase in blood Hypoglycosylation of alpha-dystroglycan Prominent nasal bridge Hip dislocation Deep philtrum Congenital hip dislocation Hypoplasia of the radius Abnormality of the metacarpal bones Renal hypoplasia/aplasia Abnormal dermatoglyphics Abnormality of dental enamel Narrow palate Hemivertebrae Short thumb Toe syndactyly Abnormality of the genital system Abnormal form of the vertebral bodies Renal hypoplasia Abnormality of the ribs Renal agenesis Hypodontia Micromelia Acute bronchitis



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