Cleft palate, and Hypermetropia

Diseases related with Cleft palate and Hypermetropia

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


Top matches:

Medium 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

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 CRANIOSYNOSTOSIS, BOSTON TYPE


Craniosynostosis, Boston type is a form of syndromic craniosynostosis, characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies (triphalangeal thumb, 3-4 syndactyly of the hands, a short first metatarsal, middle phalangeal agenesis in the feet) have also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal.

CRANIOSYNOSTOSIS, BOSTON TYPE Is also known as csb|warman-mulliken-hayward syndrome|craniosynostosis, warman type|craniosynostosis, boston-type

Related symptoms:

  • Seizures
  • Brachydactyly
  • Myopia
  • Downslanted palpebral fissures
  • Frontal bossing


SOURCES: OMIM ORPHANET MENDELIAN

More info about CRANIOSYNOSTOSIS, BOSTON TYPE

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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 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

Low match CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION; CPCMR


CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION; CPCMR Is also known as cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Abnormal facial shape


SOURCES: MESH OMIM MENDELIAN

More info about CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION; CPCMR

Low match 17P11.2 MICRODUPLICATION SYNDROME


17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 17, typically characterized by hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders (behavioral problems, anxiety, attention deficit hyperactivity disorder, autistic spectrum disorder, bipolar disorder). Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated.

17P11.2 MICRODUPLICATION SYNDROME Is also known as potocki-lupski syndrome|trisomy 17p11.2|chromosome 17p11.2 duplication syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 17P11.2 MICRODUPLICATION SYNDROME

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

Low match BRAIN MALFORMATIONS-MUSCULOSKELETAL ABNORMALITIES-FACIAL DYSMORPHISM-INTELLECTUAL DISABILITY SYNDROME


ZTTK syndrome is a severe multisystem developmental disorder characterized by delayed psychomotor development and intellectual disability. Affected individuals have characteristic dysmorphic facial features, hypotonia, poor feeding, poor overall growth, and eye or visual abnormalities. Most patients also have musculoskeletal abnormalities, and some have congenital defects of the heart and urogenital system. Brain imaging usually shows developmental abnormalities such as gyral changes, cortical and/or cerebellar atrophy, and thin corpus callosum (summary by Kim et al., 2016).

BRAIN MALFORMATIONS-MUSCULOSKELETAL ABNORMALITIES-FACIAL DYSMORPHISM-INTELLECTUAL DISABILITY SYNDROME Is also known as zttk multiple congenital anomalies-mental retardation syndrome|zhu-tokita-takenouchi-kim syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about BRAIN MALFORMATIONS-MUSCULOSKELETAL ABNORMALITIES-FACIAL DYSMORPHISM-INTELLECTUAL DISABILITY SYNDROME

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

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Microcephaly Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


High palate Abnormal facial shape Trigonocephaly Seizures Myopia Narrow forehead Autistic behavior Generalized hypotonia Strabismus Feeding difficulties Craniosynostosis Oral cleft Hydrocephalus Flexion contracture Macrocephaly Cleft lip Cleft upper lip Wide nasal bridge Atrial septal defect Epicanthus Broad forehead Astigmatism Ventricular septal defect Abnormal heart morphology Frontal bossing Downslanted palpebral fissures Abnormality of cardiovascular system morphology Abnormality of the dentition Deeply set eye

Rare Symptoms - Less than 30% cases


Micrognathia Sparse eyebrow Visual impairment Motor delay Arachnodactyly Growth delay Low-set ears Smooth philtrum Triangular face Exotropia Ventriculomegaly Cerebellar hypoplasia Respiratory insufficiency Narrow mouth Neonatal hypotonia Protruding ear Abnormality of the cerebral white matter Autism Cerebellar vermis hypoplasia Hypoplasia of the corpus callosum Gastroesophageal reflux Severe muscular hypotonia Hearing impairment Congenital contracture Delayed speech and language development Failure to thrive Pachygyria Full cheeks Abnormality of the skeletal system Cataract Hypertelorism Ptosis Depressed nasal bridge Brachydactyly Infantile muscular hypotonia Intellectual disability, severe Short nose Brachycephaly Retinopathy Microphthalmia Sensorineural hearing impairment Coarctation of aorta Thin vermilion border Hypotelorism Upslanted palpebral fissure Joint stiffness Camptodactyly Renal cyst Retinal dystrophy Intestinal malrotation Postaxial hand polydactyly Hyperlordosis Pulmonary hypoplasia Abnormality of the larynx Blepharophimosis Arthrogryposis multiplex congenita Ophthalmoplegia Abnormality of eye movement Ambiguous genitalia Abnormality of the foot Narrow chest Platyspondyly Pectus carinatum Skeletal dysplasia Abnormality of skin pigmentation Webbed neck Alopecia Clinodactyly Abnormality of the genital system Hypertension Thoracic dysplasia Wide intermamillary distance Lateral clavicle hook Median cleft lip and palate Horizontal ribs Short tibia Hamartoma of tongue Hypoplasia of the epiglottis Pancreatic fibrosis Shortening of the tibia Polysyndactyly of hallux Postaxial polysyndactyly of foot Disproportionate shortening of the tibia Microglossia Areflexia Talipes equinovarus Median cleft lip Mesomelia Short neck Preaxial hand polydactyly Congestive heart failure Tricuspid regurgitation Polycystic kidney dysplasia Pectus excavatum Dilation of lateral ventricles Short ribs Hepatic fibrosis Hydrops fetalis Spondylometaphyseal dysplasia Distal arthrogryposis Lumbar hyperlordosis Cerebellar atrophy Developmental regression Joint laxity Thin upper lip vermilion Prominent forehead Visual loss Kyphosis Respiratory distress Short philtrum Optic atrophy Nystagmus Internally rotated shoulders Exophoria Firm muscles Decreased facial expression Postnatal growth retardation Facial asymmetry Limited wrist extension Relative macrocephaly Periventricular leukomalacia Soft skin Arachnoid cyst Curly hair Abnormality of coagulation Unilateral renal agenesis Hemivertebrae Joint hypermobility Horseshoe kidney Cerebral visual impairment Abnormality of the ribs Esotropia Short foot Small hand Amyoplasia Absent phalangeal crease Abnormal lung morphology Mask-like facies Vertebral segmentation defect Long fingers Restrictive ventilatory defect Macular dystrophy Decreased muscle mass Bilateral talipes equinovarus Bilateral ptosis Tarsal synostosis Abnormal electroretinogram Adducted thumb Bilateral single transverse palmar creases Narrow face Joint contracture of the hand Abnormality of retinal pigmentation Abnormality of the hip bone Abnormality of the sternum Congenital finger flexion contractures Retinal fold Round ear Keratoglobus Decreased palmar creases Ulnar deviation of the wrist Duane anomaly Unilateral ptosis Tapetoretinal degeneration Keratoconus Abnormality of the rib cage Overlapping fingers Hypoventilation Polydactyly Aplasia/Hypoplasia of the radius Ulnar deviation of finger Micropenis Abnormality of the kidney Severe short stature Encephalocele Cyclopia Proboscis Small posterior fossa Exencephaly Muscle weakness Dilatation Elevated serum creatine phosphokinase Glaucoma Muscular dystrophy Congenital cataract Polymicrogyria Macroglossia Intellectual disability, profound Heterotopia Scaphocephaly Lissencephaly Aplasia/Hypoplasia of the corpus callosum Congenital muscular dystrophy Hypoplasia of the brainstem Skeletal muscle hypertrophy Congenital glaucoma Spinal rigidity Abnormality of the periventricular white matter Retinal atrophy Hypoplasia of the pons Buphthalmos Peters anomaly Cerebellar dysplasia Type II lissencephaly Single median maxillary incisor Facial cleft Persistent pupillary membrane Cleft soft palate Cryptorchidism Patent ductus arteriosus Corneal opacity Retinal detachment Abnormal vitreous humor morphology Headache Dolichocephaly Wormian bones Triphalangeal thumb Visual field defect Increased number of teeth Turricephaly Coronal craniosynostosis Cloverleaf skull Abnormality of digit Anterior plagiocephaly Brachyturricephaly Metopic synostosis Bicoronal synostosis Unicoronal synostosis Anteverted nares Midface retrusion Macrotia Coloboma Synophrys Microcornea Holoprosencephaly Deep philtrum Absent thumb Cerebellar cyst Moderate myopia Edema Open bite Bifid uvula Delayed myelination Dental malocclusion Abnormality of the cardiovascular system Dental crowding Stereotypy Hypercholesterolemia Sleep apnea Patent foramen ovale Failure to thrive in infancy Language impairment Oral-pharyngeal dysphagia Abnormality of dental morphology Dysphasia Small for gestational age High hypermetropia Poor eye contact Bipolar affective disorder Echolalia Abnormality of chromosome segregation Speech apraxia Abnormal renal morphology Hypocholesterolemia Abnormality of the pharynx Poor fine motor coordination Prominent nasal tip Expressive language delay Central sleep apnea Receptive language delay Hypoplasia of the maxilla Attention deficit hyperactivity disorder Syndactyly Short 2nd finger Abnormal cardiac septum morphology Poor speech Highly arched eyebrow Broad thumb Sandal gap Cutaneous syndactyly Tented upper lip vermilion 2-3 toe syndactyly Broad hallux Short 5th finger High anterior hairline Large forehead Achalasia Laterally extended eyebrow Wide mouth Oral aversion Muscular hypotonia Cognitive impairment Dysarthria Dysphagia Intellectual disability, mild Hyperactivity Hypothyroidism Mandibular prognathia EEG abnormality Anxiety Low-set, posteriorly rotated ears Apnea Feeding difficulties in infancy Intestinal atresia



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