Cleft palate, and Retinopathy

Diseases related with Cleft palate and Retinopathy

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


Top matches:

Medium 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 OROFACIODIGITAL SYNDROME TYPE 14


Orofaciodigital syndrome type 14 is a rare subtype of orofaciodigital syndrome, with autosomal recessive inheritance and C2CD3 mutations, characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux). Corpus callosum agenesis and vermis hypoplasia with molar tooth sign, on brain imaging, are also associated.

OROFACIODIGITAL SYNDROME TYPE 14 Is also known as oral-facial-digital syndrome type 14|ofd14|microcephaly-cerebral malformation-orofaciodigital syndrome

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Abnormal facial shape
  • Cleft palate
  • Hypoplasia of the corpus callosum


SOURCES: OMIM ORPHANET MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 14

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

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Other less relevant matches:

Low match GORDON SYNDROME


Gordon syndrome, also known as distal arthrogryposis type 3, is an extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition.

GORDON SYNDROME Is also known as distal arthrogryposis type iia|arthrogryposis multiplex congenita, distal, type iia|camptodactyly, cleft palate, and clubfoot|gordon syndrome|distal arthrogryposis type 3|camptodactyly-cleft palate-clubfoot syndrome

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GORDON SYNDROME

Low match SYNDROMIC MICROPHTHALMIA TYPE 5


Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations.

SYNDROMIC MICROPHTHALMIA TYPE 5 Is also known as mcops5|syndromic microphthalmia/anophthalmia due to otx2 mutation

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SYNDROMIC MICROPHTHALMIA TYPE 5

Low match KNIEST DYSPLASIA


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

Low 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

Low match MULTIPLE BENIGN CIRCUMFERENTIAL SKIN CREASES ON LIMBS


Congenital symmetric circumferential skin creases is characterized by the folding of excess skin, which leads to ringed creases, primarily of the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features (summary by Isrie et al., 2015). Genetic Heterogeneity of Congenital Symmetric Circumferential Skin CreasesCSCSC2 (OMIM ) is caused by mutation in the MAPRE2 gene (OMIM ) on chromosome 18q12.

MULTIPLE BENIGN CIRCUMFERENTIAL SKIN CREASES ON LIMBS Is also known as congenital circumferential skin folds|skin creases, multiple benign ring-shaped, of limbs|kunze-riehm syndrome|ccsf|circumferential skin creases, kunze type|michelin tire baby syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE BENIGN CIRCUMFERENTIAL SKIN CREASES ON LIMBS

Low match ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5


Distal arthrogryposis type 5 is distinguished from other forms of DA by the presence of ocular abnormalities, typically ptosis, ophthalmoplegia, and/or strabismus, in addition to contractures of the skeletal muscles. Some cases have been reported to have pulmonary hypertension as a result of restrictive lung disease (summary by Bamshad et al., 2009).There are 2 syndromes with features overlapping those of DA5 that are also caused by heterozygous mutation in PIEZO2: distal arthrogryposis type 3 (DA3, or Gordon syndrome; {114300}) and Marden-Walker syndrome (MWKS ), which are distinguished by the presence of cleft palate and mental retardation, respectively. McMillin et al. (2014) suggested that the 3 disorders might represent variable expressivity of the same condition.For a general phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1A (OMIM ). Genetic Heterogeneity of Distal Arthrogryposis 5A subtype of DA5 due to mutation in the ECEL1 gene (OMIM ) on chromosome 2q36 has been designated DA5D (OMIM ). See NOMENCLATURE.

ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5 Is also known as daiib|arthrogryposis, distal, type iib|arthrogryposis with oculomotor limitation and electroretinal abnormalities|oculomelic amyoplasia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5

Low match WOLF-HIRSCHHORN SYNDROME


Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia.

WOLF-HIRSCHHORN SYNDROME Is also known as distal deletion 4p|distal monosomy 4p|telomeric deletion 4p|4p- syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about WOLF-HIRSCHHORN SYNDROME

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

Symptoms // Phenotype % cases
Micrognathia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Cataract Uncommon - Between 30% and 50% cases
Myopia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Cryptorchidism Scoliosis Global developmental delay Short stature Ptosis Flexion contracture Epicanthus Talipes equinovarus Short neck Intellectual disability, severe Microcephaly Seizures Retinal detachment Pectus excavatum Microcornea Optic nerve hypoplasia Long fingers Sensorineural hearing impairment Narrow mouth High palate Arachnodactyly Posteriorly rotated ears Agenesis of corpus callosum Hyperlordosis Protruding ear Microphthalmia Abnormality of the foot Generalized hypotonia Dandy-Walker malformation Proptosis Bifid uvula Hypoplasia of the corpus callosum Depressed nasal bridge Glaucoma Hypertelorism Microtia Wide nasal bridge

Rare Symptoms - Less than 30% cases


High forehead Hypospadias Hernia Abnormality of cardiovascular system morphology Congestive heart failure Respiratory distress Downslanted palpebral fissures Joint stiffness Nystagmus Coloboma Congenital contracture Abnormality of the rib cage Distal arthrogryposis Submucous cleft hard palate Decreased muscle mass Bilateral talipes equinovarus Megalocornea Low-set, posteriorly rotated ears Blepharophimosis Astigmatism Muscular hypotonia Umbilical hernia Abnormal vertebral morphology Inguinal hernia Kyphosis Macrocephaly Motor delay Retinal dysplasia Low-set ears Retinal dystrophy Intrauterine growth retardation Optic atrophy Frontal bossing Areflexia Wide intermamillary distance Cleft upper lip Iris coloboma Strabismus Overlapping toe Anophthalmia Arthropathy Malar flattening Abnormal vitreous humor morphology Camptodactyly Glossoptosis Midface retrusion Abnormal facial shape Upslanted palpebral fissure Micropenis Ophthalmoplegia Long philtrum Intellectual disability, mild Telecanthus Microretrognathia Osteoarthritis Hamartoma Spondyloepiphyseal dysplasia Arthrogryposis multiplex congenita Deeply set eye Webbed neck Corneal opacity Triangular face Abnormality of skin pigmentation Lumbar hyperlordosis Calvarial skull defect Localized neuroblastoma Aplasia/Hypoplasia of the nipples Short hallux Cutis laxa Increased number of skin folds Abdominal situs inversus Thickened skin Scrotal hypoplasia Overfolded helix Rib fusion Generalized hirsutism Hypoplastic nipples Tricuspid regurgitation Irregular hyperpigmentation High anterior hairline Abnormality of the scrotum Upper limb asymmetry Median cleft palate Broad eyebrow Abnormality of the musculature Periorbital fullness Lower limb asymmetry External ear malformation Cerebellar vermis atrophy Neuroblastoma Abnormal form of the vertebral bodies Tethered cord Hypoplasia of dental enamel Abnormal lactate dehydrogenase activity Delayed speech and language development Abnormal aldolase level Thick cerebral cortex Aplasia/Hypoplasia involving the skeletal musculature Hypoplastic male external genitalia Chorioretinal dysplasia Macrogyria Rib segmentation abnormalities Severe hydrocephalus Metatarsus valgus Abnormality of the cerebellar vermis Abnormal levels of creatine kinase in blood Hypoglycosylation of alpha-dystroglycan Meningoencephalocele Edema Abnormality of the gallbladder Abnormality of the face Clinodactyly Hypertrichosis Short palpebral fissure Aplasia cutis congenita of scalp Febrile seizures Abnormality of the skin Nevus Full cheeks Abnormal heart morphology Flat face Abnormality of the philtrum Severe global developmental delay Abnormality of the pinna Abnormal lip morphology Brachycephaly Hypertension Narrow face Alopecia Atrial septal defect Osteoporosis Recurrent respiratory infections Preaxial hand polydactyly Disproportionate tall stature Abnormal heart valve morphology Delayed skeletal maturation Failure to thrive Abnormal cardiac septum morphology Abnormality of the immune system Remnants of the hyaloid vascular system Ataxia Internally rotated shoulders Exophoria Firm muscles Abnormality of the kidney Aplasia/Hypoplasia of the cerebellum Decreased facial expression Hypodontia Split hand Low posterior hairline Congenital diaphragmatic hernia Short thumb Decreased fetal movement Sacral dimple Highly arched eyebrow Chronic otitis media Downturned corners of mouth Abnormality of movement Dolichocephaly Hemangioma Abnormality of the urinary system Short philtrum Abnormality of the thorax Abnormality of the vertebral column Amyoplasia Hypermetropia Bilateral ptosis Tarsal synostosis Abnormality of the hip bone Vertebral segmentation defect Restrictive ventilatory defect Macular dystrophy Mask-like facies Abnormal electroretinogram Keratoconus Adducted thumb Bilateral single transverse palmar creases Abnormality of the genital system Joint contracture of the hand Abnormality of retinal pigmentation Abnormal lung morphology Abnormality of eye movement Abnormality of the sternum Ulnar deviation of finger Limited wrist extension Duane anomaly Absent phalangeal crease Congenital finger flexion contractures Round ear Keratoglobus Decreased palmar creases Ulnar deviation of the wrist Unilateral ptosis Sclerocornea Retinal fold Tapetoretinal degeneration Abnormality of the mouth Overlapping fingers Hypoventilation Aplasia/Hypoplasia of the lungs Aplasia/Hypoplasia of the radius Posterior fossa cyst Blindness Excessive daytime sleepiness Arnold-Chiari malformation Ectopic posterior pituitary Central hypothyroidism Hypoplasia of the fovea Microglossia Posterior embryotoxon Short middle phalanx of finger Pigmentary retinopathy Macular scar Hypoplasia of the maxilla Scarring Joint laxity Photophobia Hypothyroidism Respiratory insufficiency Mandibular aplasia Proboscis Ulnar deviation of the hand or of fingers of the hand Skeletal dysplasia High myopia Round face Micromelia Platyspondyly Hip dislocation Conductive hearing impairment Retrognathia Aglossia Severe short stature Depressivity Short nose Abnormality of the skeletal system Gait disturbance Pain Myopic astigmatism Camptodactyly of toe Decreased hip abduction Abnormality of the metaphysis Hamartoma of tongue Mitral valve prolapse Joint hypermobility Pectus carinatum Arthralgia Anteverted nares Aplasia of the epiglottis Lobulated tongue Pierre-Robin sequence Bifid tongue Increased number of teeth Molar tooth sign on MRI Trigonocephaly Postaxial polydactyly Polydactyly Absent speech Exostoses Abnormal metacarpal morphology Down-sloping shoulders Interphalangeal joint contracture of finger Thoracolumbar scoliosis Cutaneous finger syndactyly Pterygium Knee flexion contracture Congenital hip dislocation Short phalanx of finger Limitation of joint mobility Syndactyly Single transverse palmar crease Talipes Facial asymmetry Finger syndactyly Camptodactyly of finger Kyphoscoliosis Clinodactyly of the 5th finger Recurrent otitis media Abnormality of epiphysis morphology Agyria Intellectual disability, profound Severe muscular hypotonia Renal dysplasia Heterotopia Pachygyria Encephalocele Cerebellar vermis hypoplasia Hypoplasia of penis Atresia of the external auditory canal Specific learning disability Polymicrogyria Oral cleft Anal atresia Congenital cataract Abnormality of the cerebral white matter Muscular dystrophy Lissencephaly Congenital muscular dystrophy Hydronephrosis Buphthalmos Cerebellar cyst Type II lissencephaly Cerebellar dysplasia Muscle fiber splitting Peters anomaly Aqueductal stenosis Abnormality of the optic nerve Hypoplasia of the brainstem Abnormal cortical gyration Bilateral cleft lip Retinal atrophy Occipital encephalocele Absent septum pellucidum Congenital glaucoma Abnormality of neuronal migration Cleft lip Cerebellar hypoplasia Rhizomelia Tracheomalacia Disproportionate short-trunk short stature Hypoplastic pelvis Tracheal stenosis Delayed epiphyseal ossification Vitreoretinopathy Bell-shaped thorax Hip contracture Enlarged joints Chorioretinal atrophy Short thorax Flared metaphysis Neonatal respiratory distress Ectopia lentis Coxa vara Joint dislocation Hypoplastic ilia Coronal cleft vertebrae Elevated serum creatine phosphokinase Muscle weakness Hyporeflexia Dilatation Myopathy Hydrocephalus Ventriculomegaly Skeletal muscle atrophy Growth delay Enlarged thorax Abnormal cartilage collagen Flattened, squared-off epiphyses of tubular bones Splayed epiphyses Lumbar kyphoscoliosis Dumbbell-shaped long bone Rhegmatogenous retinal detachment Lens luxation Hypoplastic pubic rami



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Retinal detachment, related diseases and genetic alterations Frontal bossing and Pallor, related diseases and genetic alterations Depressed nasal bridge and Intellectual disability, moderate, related diseases and genetic alterations Epicanthus and Arachnodactyly, related diseases and genetic alterations

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