High palate, and High myopia

Diseases related with High palate and High myopia

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


Top matches:

High match CAMPTODACTYLY-TALL STATURE-SCOLIOSIS-HEARING LOSS SYNDROME


Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterised by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth.

CAMPTODACTYLY-TALL STATURE-SCOLIOSIS-HEARING LOSS SYNDROME Is also known as catshl syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about CAMPTODACTYLY-TALL STATURE-SCOLIOSIS-HEARING LOSS SYNDROME

High match SHWACHMAN-DIAMOND SYNDROME 2; SDS2


Shwachman-Diamond syndrome-2 (SDS2) is characterized by exocrine pancreatic dysfunction, hematopoietic abnormalities, short stature, and metaphyseal dysplasia (Stepensky et al., 2017).For a discussion of genetic heterogeneity of Shwachman-Diamond syndrome, see SDS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about SHWACHMAN-DIAMOND SYNDROME 2; SDS2

High match MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR


Macrocephaly, dysmorphic facies, and psychomotor retardation (MDFPMR) is an autosomal recessive neurodevelopmental disorder characterized by large head and somatic overgrowth apparent at birth followed by global developmental delay. Affected individuals have characteristic dysmorphic facial features and persistently large head, but increased birth weight normalizes with age. Additional neurologic features, including seizures, hypotonia, and gait ataxia, may also occur. Patients show severe intellectual impairment (summary by Ortega-Recalde et al., 2015).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR

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Other less relevant matches:

High match PROGEROID AND MARFANOID ASPECT-LIPODYSTROPHY SYNDROME


Progeroid and marfanoid aspect-lipodystrophy syndrome is a rare systemic disease characterized by a neonatal progeroid appearance (not associated with other manifestations of premature aging) associated with facial dysmorphism (e.g. macrocephaly or arrested hydrocephaly, proptosis, downslanting palpebral fissures, retrognathia), generalized, extreme, congenital lack of subcutaneous fat tissue (except in the breast and iliac region) and incomplete signs of Marfan syndrome (mainly severe myopia, joint hyperextensibility and arachnodactyly). Metabolic disturbances are not associated.

PROGEROID AND MARFANOID ASPECT-LIPODYSTROPHY SYNDROME Is also known as marfanoid-progeroid syndrome|marfan-progeroid-lipodystrophy syndrome

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Abnormal facial shape
  • Hypertension
  • Myopia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGEROID AND MARFANOID ASPECT-LIPODYSTROPHY SYNDROME

High match CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A


Autosomal recessive cutis laxa type II represents a spectrum of clinical entities with variable severity of cutis laxa, abnormal growth, developmental delay, and associated skeletal abnormalities. Aside from cutis laxa, persistent wide fontanels, frontal bossing, slight oxycephaly, downward-slanted palpebral fissures, reversed-V eyebrows, and dental caries are characteristic. Patients with ARCL2 can be divided into 2 major groups: ARCL2A, comprising those with a combined N- and O-linked glycosylation defect (CDG type II), and ARCL2B, those without a metabolic disorder (summary by Morava et al., 2009). Van Maldergem et al. (2008) concluded that ARCL2A should be considered more of a multisystem disorder with cobblestone-like brain dysgenesis manifesting as developmental delay and an epileptic neurodegenerative syndrome rather than purely a dermatologic disorder.For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ). Genetic Heterogeneity of Cutis Laxa Type IIARCL2A is caused by mutation in the ATP6V0A2 gene. ARCL2B (OMIM ) is caused by mutation in the PYCR1 gene (OMIM ). ARCL2C (OMIM ) is caused by mutation in the ATP6V1E1 gene (OMIM ). ARCL2D (OMIM ) is caused by mutation in the ATP6V1A gene (OMIM ).

CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A Is also known as cutis laxa with growth and developmental delay|cutis laxa, debre type|cutis laxa with bone dystrophy|cutis laxa with joint laxity and retarded development|arcl2|cutis laxa with congenital disorder of glycosylation

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A

High match BRITTLE CORNEA SYNDROME


Brittle cornea syndrome is a form of Ehlers-Danlos syndrome characterized by a severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, and progression to blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility.

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Cleft palate
  • High palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about BRITTLE CORNEA SYNDROME

High match X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE


X-linked intellectual disability, Snyder type is a rare X-linked intellectual disability syndrome characterized by hypotonia, asthenic build with diminished muscle mass, severe generalized psychomotor delay, unsteady gait and moderate to severe intellectual disability, as well as a long, thin, asymmetrical face with prominent lower lip, long fingers and toes and nasal, dysarthric or absent speech. Bone abnormalities (e.g., osteoporosis, kyphoscoliosis, fractures, joint contractures) are also characteristic. Myoclonic, or myoclonic-like, seizures and renal abnormalities have been associated in some patients.

X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE Is also known as snyder-robinson syndrome|snyder-robinson mental retardation syndrome|srs

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE

High match NEONATAL MARFAN SYNDROME


Neonatal Marfan syndrome is a rare, severe and life-threatening genetic disease, occuring during the neonatal period, characterized by classical Marfan syndrome manifestations in addition to facial dysmorphism (megalocornea, iridodonesis, ectopia lentis, crumpled ears, loose redundant skin giving a 'senile' facial appearance), flexion joint contractures, pulmonary emphysema, and a severe, rapidly progressive cardiovascular disease (including ascending aortic dilatation and severe mitral and/or tricuspid valve insufficiency). Additionally, skeletal manifestations (arachnodactyly, dolichostenomelia, pectus deformities) are also associated.

NEONATAL MARFAN SYNDROME Is also known as neonatal mfs

Related symptoms:

  • Micrognathia
  • Muscular hypotonia
  • Low-set ears
  • Flexion contracture
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about NEONATAL MARFAN SYNDROME

High match CRANIOFACIAL DYSPLASIA-OSTEOPENIA SYNDROME


Craniofacial dysplasia-osteopenia syndrome is a rare, genetic developmental defect during embryogenesis disorder characterized by craniofacial dysmorphism (incl. brachycephaly, prominent forehead, sparse lateral eyebrows, severe hypertelorism, upslanting palpebral fissures, epicanthal folds, protruding ears, broad nasal bridge, pointed nasal tip, flat philtrum, anteverted nostrils, large mouth, thin upper vermilion border, highly arched palate and mild micrognathia) associated with osteopenia leading to repeated long bone fractures, severe myopia, mild to moderate sensorineural or mixed hearing loss, enamel hypoplasia, sloping shoulders and mild intellectual disability.

CRANIOFACIAL DYSPLASIA-OSTEOPENIA SYNDROME Is also known as hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility|hamamy syndrome

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment
  • Cryptorchidism


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CRANIOFACIAL DYSPLASIA-OSTEOPENIA SYNDROME

High match RIN2 SYNDROME


RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly (see this term) have also been reported.

RIN2 SYNDROME Is also known as rin2 deficiency|tall forehead, sparse hair, skin hyperextensibility, and scoliosis|tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome|macrocephaly-alopecia-cutis laxa-scoliosis syndrome|macs syndrome|macrocephaly, alopecia, cutis laxa, a

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Muscular hypotonia
  • Cryptorchidism


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about RIN2 SYNDROME

Top 5 symptoms//phenotypes associated to High palate and High myopia

Symptoms // Phenotype % cases
Myopia Common - Between 50% and 80% cases
Arachnodactyly Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Pes planus Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with High palate and High myopia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis Pectus excavatum Downslanted palpebral fissures Global developmental delay Cutis laxa Generalized hypotonia Abnormal facial shape Joint hypermobility Tall stature Muscular hypotonia Long fingers Bruising susceptibility Inguinal hernia Prominent nasal bridge Osteoporosis Hernia Long philtrum Anteverted nares Cognitive impairment Mitral valve prolapse Hypertelorism Seizures High, narrow palate Macrocephaly Feeding difficulties Ectopia lentis Craniosynostosis Failure to thrive Camptodactyly Growth delay Short stature Cryptorchidism Sensorineural hearing impairment Microcephaly Hearing impairment

Rare Symptoms - Less than 30% cases


Joint laxity Megalocornea Hip dislocation Overgrowth Difficulty walking Kyphoscoliosis Brachycephaly Narrow mouth Blue sclerae Proptosis Sparse eyebrow Long toe Disproportionate tall stature Slender build Prominent forehead Motor delay Intrauterine growth retardation Dilatation Micrognathia Retrognathia Narrow palm Wide nasal bridge Hyperextensibility of the finger joints Lipodystrophy Aortic aneurysm Mitral regurgitation Aortic root aneurysm Upslanted palpebral fissure Mandibular prognathia Severe intrauterine growth retardation Frontal bossing Gait disturbance Thick lower lip vermilion Redundant skin Umbilical hernia Smooth philtrum Webbed neck Hyperextensible skin Delayed speech and language development Congenital hip dislocation Increased susceptibility to fractures Absent speech Malar flattening Pectus carinatum Hip dysplasia Recurrent fractures Hydrocephalus Cleft palate Facial asymmetry Hyporeflexia Abnormality of movement Synophrys Unsteady gait Short philtrum Deeply set eye Bulbous nose Flexion contracture Abnormality of the pinna Postural instability Generalized myoclonic seizures Bifid uvula Narrow face Asymmetry of the ears Long hallux Nasal speech Decreased muscle mass Hyperpigmentation of the skin Slender finger Myoclonus Epileptic spasms Small for gestational age Small earlobe Intellectual disability, moderate Wide intermamillary distance Dental crowding Broad-based gait Talipes equinovarus Dysarthria Focal motor seizures Spontaneous abortion Intellectual disability, profound Long palm Ptosis Abnormal cardiac ventricle morphology Dolichocephaly Bronchiectasis Short 2nd finger Brachydactyly Alopecia Hypogonadism Coarse facial features Sparse hair Ichthyosis Hirsutism Thick vermilion border Everted lower lip vermilion Single transverse palmar crease Narrow forehead Sparse scalp hair Decreased body weight Gingival overgrowth Moderate global developmental delay Sparse and thin eyebrow Hypergonadotropic hypogonadism Premature ovarian insufficiency High pitched voice Prolonged bleeding time Abnormality of the sternum Palpebral edema Abnormality of the vasculature Generalized osteoporosis Eclabion Urethral stenosis Irregular dentition Abnormal lip morphology Upper eyelid edema Hypochromic anemia Sparse lateral eyebrow Decreased testicular size Crumpled ear Adducted thumb Heart murmur Neonatal respiratory distress Tricuspid regurgitation Emphysema Lipoatrophy Hypoxemia Abnormal echocardiogram Enlarged thorax Ascending tubular aorta aneurysm Tricuspid valve prolapse Iridodonesis Decreased corneal thickness Talipes calcaneovarus Increased arm span Down-sloping shoulders Hypodontia Hypoparathyroidism Microcytic anemia Preauricular skin tag Hypoplasia of dental enamel Low posterior hairline Dental malocclusion Tapered finger Dysphagia Wide mouth Developmental regression Osteopenia Clinodactyly Syndactyly Atrial septal defect Abnormality of hair pigmentation Wide anterior fontanel Keratoglobus Posteriorly rotated ears Prolonged partial thromboplastin time Prolonged prothrombin time Normocytic anemia Subglottic stenosis Laryngeal cleft Hyperechogenic pancreas Ataxia Ventriculomegaly Cerebellar atrophy Kyphosis Cerebellar hypoplasia Cerebral cortical atrophy Severe failure to thrive Gait ataxia Macrotia High forehead Hyperlordosis Long face Abnormal cerebellum morphology Triangular face Lumbar hyperlordosis Large hands Megalencephaly Long foot Communicating hydrocephalus Mild global developmental delay Exocrine pancreatic insufficiency Expressive language delay Diarrhea Cataract Camptodactyly of finger Bilateral sensorineural hearing impairment Interphalangeal joint contracture of finger Joint contracture of the hand Camptodactyly of toe Osteochondroma Increased vertebral height Abnormality of lower limb joint Broad femoral metaphyses Anemia Thrombocytopenia Metaphyseal dysplasia Constipation Respiratory tract infection Neutropenia Rhizomelia Severe muscular hypotonia Genu varum Laryngomalacia Metaphyseal widening Metaphyseal irregularity Mild short stature Neurodevelopmental delay Steatorrhea Metopic synostosis Long neck Flat cornea Myalgia Growth abnormality Prominent supraorbital ridges Brittle hair Oxycephaly Abnormal isoelectric focusing of serum transferrin Edema Abnormality of the dentition Visual loss Glaucoma Conductive hearing impairment Neonatal hypotonia Pulmonic stenosis Large fontanelles Joint hyperflexibility Retinal detachment Microcornea Abnormality of epiphysis morphology Corneal dystrophy Hallux valgus Keratoconus Soft skin Sclerocornea Corneal erosion Corneal scarring Shoulder dislocation Coarse hair Pachygyria Thick corpus callosum Entropion Severe expressive language delay Hypertension Gastroesophageal reflux Arthrogryposis multiplex congenita Premature birth Oligohydramnios Increased body weight Relative macrocephaly Reduced subcutaneous adipose tissue Scaphocephaly Narrow nose Progeroid facial appearance Pes valgus Dandy-Walker malformation Dural ectasia Prominent scalp veins Strabismus Abnormality of the skeletal system Short nose Midface retrusion Feeding difficulties in infancy Postnatal growth retardation Carious teeth Confusion Polymicrogyria Flat face Infra-orbital fold



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Downslanted palpebral fissures and Cleft upper lip, related diseases and genetic alterations Abnormality of the skeletal system and Apnea, related diseases and genetic alterations Motor delay and Macroglossia, related diseases and genetic alterations

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