Cleft palate, and Astigmatism

Diseases related with Cleft palate and Astigmatism

In the following list you will find some of the most common rare diseases related to Cleft palate and Astigmatism 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 INTELLECTUAL DISABILITY-FEEDING DIFFICULTIES-DEVELOPMENTAL DELAY-MICROCEPHALY SYNDROME


Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by borderline to severe intellectual disability, global development delay, feeding difficulties, microcephaly, short stature and mild facial dysmorphism, including thick eyebrows, long eyelashes, prominent incisors and/or thin upper lip. Other associated features may include hypermetropia with or without esotropia, behavioral anomallies (e.g. autistic behavior, sleeping disturbances), urogenital abnormalities (e.g. crytorchidism, inguinal hernia), single palmar crease, fifth-finger clinodactyly and cardiac defects (e.g. ASD, PDA).

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-FEEDING DIFFICULTIES-DEVELOPMENTAL DELAY-MICROCEPHALY SYNDROME

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

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Other less relevant matches:

Low match HOLOPROSENCEPHALY 5; HPE5


Holoprosencephaly associated with mutations in the ZIC2 gene.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM MESH MENDELIAN

More info about HOLOPROSENCEPHALY 5; HPE5

Low match HOLOPROSENCEPHALY 2; HPE2


A rare disorder characterized by the partial separation of the cerebral hemispheres. It is associated with mutations in the SIX3 gene.

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 2; HPE2

Low match STROMME SYNDROME; STROMS


Stromme syndrome is an autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy. Affected individuals typically have some type of intestinal atresia, variable ocular abnormalities, microcephaly, and sometimes involvement of other systems, including renal and cardiac. In some cases, the condition is lethal in early life, whereas other patients show normal survival with or without mild cognitive impairment (summary by Filges et al., 2016).

STROMME SYNDROME; STROMS Is also known as jejunal atresia with microcephaly and ocular anomalies|apple peel syndrome with microcephaly and ocular anomalies|ciliary dyskinesia, primary, 31, formerly|cild31, formerly

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: MESH OMIM MENDELIAN

More info about STROMME SYNDROME; STROMS

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 SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY; SRTD6


Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).

SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY; SRTD6 Is also known as majewski syndrome|short rib-polydactyly syndrome, type ii|srps2a|srps, type ii|polydactyly with neonatal chondrodystrophy, type ii|short rib-polydactyly syndrome, type iia

Related symptoms:

  • Short stature
  • Cleft palate
  • Delayed speech and language development
  • Motor delay
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY; SRTD6

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

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

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Cataract Common - Between 50% and 80% cases
Micrognathia Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Coloboma Ptosis Hypermetropia Microcornea Microphthalmia Myopia Macrocephaly Hydrocephalus High palate Hypotelorism Proboscis Seizures Sensorineural hearing impairment Agenesis of corpus callosum Cryptorchidism Retinopathy Generalized hypotonia Micropenis Strabismus

Rare Symptoms - Less than 30% cases


Cleft lip Wide nasal bridge Polydactyly Deeply set eye Intestinal malrotation Exotropia Holoprosencephaly Respiratory insufficiency Scaphocephaly Talipes equinovarus Median cleft lip and palate Single median maxillary incisor Cyclopia Ventricular septal defect Cerebellar vermis hypoplasia Scoliosis Motor delay Nystagmus Low-set ears Cerebellar hypoplasia Optic nerve hypoplasia Narrow mouth Oral cleft Atrial septal defect Abnormal facial shape Feeding difficulties Microglossia Platyspondyly Hypertelorism Malar flattening Retinal dystrophy Anteverted nares Intellectual disability, severe Retinal detachment Short nose Midface retrusion Polysyndactyly of hallux Postaxial polysyndactyly of foot Craniosynostosis Pectus carinatum Disproportionate shortening of the tibia Shortening of the tibia Hearing impairment Polycystic kidney dysplasia Hypertension Skeletal dysplasia Flexion contracture Brachycephaly Pancreatic fibrosis Epicanthus Short neck Congestive heart failure Pectus excavatum Clinodactyly Severe short stature Narrow chest Cleft upper lip Hypoplasia of the epiglottis Thoracic dysplasia Short ribs Preaxial hand polydactyly Hepatic fibrosis Mesomelia Median cleft lip Short tibia Hydrops fetalis Abnormality of the genital system Pachygyria Ambiguous genitalia Hamartoma of tongue Postaxial hand polydactyly Renal cyst Pulmonary hypoplasia Dilation of lateral ventricles Abnormality of the larynx Tricuspid regurgitation Spondylometaphyseal dysplasia Lateral clavicle hook Horizontal ribs Areflexia Adducted thumb Alopecia Retinal fold Abnormality of the hip bone Tarsal synostosis Abnormality of the sternum Keratoconus Ulnar deviation of finger Aplasia/Hypoplasia of the radius Distal arthrogryposis Hypoventilation Overlapping fingers Abnormality of the rib cage Tapetoretinal degeneration Unilateral ptosis Long fingers Duane anomaly Ulnar deviation of the wrist Decreased palmar creases Keratoglobus Round ear Congenital finger flexion contractures Absent phalangeal crease Limited wrist extension Amyoplasia Decreased facial expression Firm muscles Exophoria Vertebral segmentation defect Restrictive ventilatory defect Camptodactyly Wide intermamillary distance Hyperlordosis Protruding ear Joint stiffness Blepharophimosis Arthrogryposis multiplex congenita Ophthalmoplegia Abnormality of eye movement Abnormality of the foot Arachnodactyly Abnormality of skin pigmentation Triangular face Webbed neck Lumbar hyperlordosis Macular dystrophy Abnormal lung morphology Abnormality of retinal pigmentation Joint contracture of the hand Narrow face Bilateral single transverse palmar creases Edema Abnormal electroretinogram Bilateral ptosis Congenital contracture Mask-like facies Bilateral talipes equinovarus Decreased muscle mass Abnormal heart morphology Hypoplastic iris stroma Brachydactyly Single ventricle Small posterior fossa Exencephaly Muscular hypotonia Constipation Bifid uvula Diabetes insipidus Narrow nasal bridge Submucous cleft hard palate Adrenal hypoplasia Chronic constipation Hypoplastic philtrum Abnormality of digit Absent nasal septal cartilage Aplasia of the nose Anterior pituitary agenesis Failure to thrive Intrauterine growth retardation Hypospadias Gait ataxia Autism Retrognathia Rhizomelia Facial cleft Absent thumb Accelerated skeletal maturation Amblyopia Corneal opacity Abnormal vitreous humor morphology Abnormality of the dentition Patent ductus arteriosus Autistic behavior Thin vermilion border Coarctation of aorta Genu valgum Joint hyperflexibility Flat face Abnormality of epiphysis morphology Trigonocephaly Epiphyseal dysplasia Irregular vertebral endplates Vitreoretinopathy Depressed nasal bridge Abnormality of the skeletal system Upslanted palpebral fissure Macrotia Broad forehead Synophrys Narrow forehead Deep philtrum Coxa valga Scrotal hypoplasia Delayed speech and language development Arnold-Chiari malformation Downslanted palpebral fissures Respiratory distress Posteriorly rotated ears Hypothyroidism Photophobia Joint laxity Scarring Hypoplasia of the maxilla Pigmentary retinopathy Microretrognathia Anophthalmia Jejunal atresia Short middle phalanx of finger Posterior embryotoxon Hypoplasia of the fovea Retinal dysplasia Central hypothyroidism Ectopic posterior pituitary Mandibular aplasia Macular scar Aglossia Myopic astigmatism Corneal astigmatism Bilateral renal hypoplasia Metaphyseal widening Iris coloboma 2-3 toe syndactyly Obstructive sleep apnea Broad femoral neck Cognitive impairment Myopathy Hydronephrosis Abnormality of the pinna Wide mouth Prominent nasal bridge Malabsorption Prominent nose Retinal vascular tortuosity Renal hypoplasia Short palpebral fissure Preaxial polydactyly Short columella Sclerocornea Duodenal atresia Ectopia pupillae Sex reversal Peters anomaly Intestinal atresia Accessory spleen Internally rotated shoulders



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