High palate, and Encephalocele

Diseases related with High palate and Encephalocele

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

Top matches:

Arhinia-choanal atresia-microphthalmia is a malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.

ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME Is also known as arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Cleft palate
  • Cataract
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME

Medium match FRASER SYNDROME

Fraser syndrome is a rare clinical entity including as main characteristics cryptophthalmos and syndactyly.

FRASER SYNDROME Is also known as cryptophthalmos-syndactyly syndrome

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Hypertelorism
  • Cryptorchidism
  • High palate


SOURCES: ORPHANET MENDELIAN

More info about FRASER SYNDROME

Joubert syndrome is a genetically heterogeneous autosomal recessive disorder characterized by a specific hindbrain malformation, which is referred to as the 'molar tooth sign' (MTS) on brain MRI, hypotonia, developmental delay, oculomotor apraxia, and breathing abnormalities. The complex brainstem malformation consists of cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (Maria et al., 1997). Additional features sometimes associated with Joubert syndrome include retinal anomalies, polydactyly, hepatic fibrosis, and renal disease. These related disorders are often referred to as 'cerebellooculorenal syndromes' (CORSs) (Chance et al., 1999; Satran et al., 1999).

JOUBERT SYNDROME 2; JBTS2 Is also known as cors2|cerebellooculorenal syndrome 2

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Hypertelorism


SOURCES: MESH OMIM MENDELIAN

More info about JOUBERT SYNDROME 2; JBTS2

Other less relevant matches:

Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects.

TREACHER-COLLINS SYNDROME Is also known as franceschetti-klein syndrome|mandibulofacial dysostosis without limb anomalies

Related symptoms:

  • Global developmental delay
  • Hypertelorism
  • Failure to thrive
  • Micrognathia
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about TREACHER-COLLINS SYNDROME

Fraser syndrome is an autosomal recessive malformation disorder characterized by cryptophthalmos, syndactyly, and abnormalities of the respiratory and urogenital tract (summary by van Haelst et al., 2008). Genetic Heterogeneity of Fraser SyndromeFraser syndrome-2 (FRASRS2) is caused by mutation in the FREM2 gene (OMIM ) on chromosome 13q13, and Fraser syndrome-3 (FRASRS3) is caused by mutation in the GRIP1 gene (OMIM ) on chromosome 12q14.See Bowen syndrome (OMIM ) for a comparable but probably distinct syndrome of multiple congenital malformations.

FRASER SYNDROME 1; FRASRS1 Is also known as cryptophthalmos with other malformations|fraser syndrome|cryptophthalmos-syndactyly syndrome

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Hypertelorism
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about FRASER SYNDROME 1; FRASRS1

Craniofrontonasal dysplasia is an X-linked malformation syndrome characterized by facial asymmetry (particularly orbital), body asymmetry, midline defects (hypertelorism, frontal bossing, broad grooved or bifid nasal tip, cleft lip and/or palate, high arched palate), skeletal anomalies (clavicle pseudoarthrosis, coronal craniosynostosis, various digital and limb anomalies including syndactyly, clinodactyly of the 5th finger, broad thumbs) and ectodermal dysplasias (dental anomalies, grooved nails, wiry hair). Contrary to most X-linked disorders, females are much more severely affected whereas males are asymptomatic or present with a mild phenotype, frequently only displaying hypertelorism.

CRANIOFRONTONASAL DYSPLASIA Is also known as cfnd|cfns|craniofrontonasal syndrome|craniofrontonasal dysostosis|craniofrontonasal dysplasia

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CRANIOFRONTONASAL DYSPLASIA

Schinzel phocomelia syndrome, also called limb/pelvis hypoplasia/aplasia syndrome, is characterized by skeletal malformations affecting the ulnae, pelvic bones, fibulae and femora. As the phenotype is similar to that described in the malformation syndrome known as Al-Awadi/Raas-Rothschild syndrome, they are thought to be the same disorder.

PHOCOMELIA, SCHINZEL TYPE Is also known as al-awadi/raas-rothschild syndrome|aarrs|lphas|congenital absence of ulna and fibula|aplasia/hypoplasia of limbs and pelvis|al awadi-raas-rothschild syndrome|severe limb deficit|limb/pelvis-hypoplasia/aplasia syndrome|schinzel phocomelia syndrome

Related symptoms:

  • Micrognathia
  • Abnormal facial shape
  • Cleft palate
  • Cryptorchidism
  • Low-set ears


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PHOCOMELIA, SCHINZEL TYPE

Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet.

OROFACIODIGITAL SYNDROME TYPE 4 Is also known as oral-facial-digital syndrome, type iv|ofd syndrome with tibial defects|ofd syndrome, baraitser-burn type|mohr-majewski syndrome|ofds iv|oral-facial-digital syndrome type 4|ofd4|baraitser-burn syndrome

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 4

Roberts syndrome is a rare autosomal recessive disorder characterized by tetraphocomelia (symmetrical limb reduction), craniofacial anomalies, growth retardation, mental retardation, and cardiac and renal abnormalities (summary by Goh et al., 2010).

ROBERTS SYNDROME; RBS Is also known as long bone deficiencies associated with cleft lip-palate

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ROBERTS SYNDROME; RBS

Otopalatodigital syndrome type 2 (OPD2) is a severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival.

OTOPALATODIGITAL SYNDROME TYPE 2 Is also known as faciopalatoosseous syndrome|opd syndrome 2|opd ii syndrome|fpo|cranioorodigital syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about OTOPALATODIGITAL SYNDROME TYPE 2

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

Symptoms // Phenotype % cases
Hypertelorism Very Common - Between 80% and 100% cases
Cleft palate Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases
Hypospadias Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Intellectual disability

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly

Common Symptoms - More than 50% cases

Wide nasal bridge

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay

Common Symptoms - More than 50% cases

Microphthalmia

Uncommon Symptoms - Between 30% and 50% cases

Conductive hearing impairment Cleft upper lip Polydactyly Skeletal dysplasia Hearing impairment Micrognathia Cleft lip Toe syndactyly Failure to thrive Anal atresia Midface retrusion Depressed nasal bridge Pulmonary hypoplasia Cataract Retrognathia Renal cyst Ambiguous genitalia Hydrocephalus Talipes equinovarus Finger syndactyly Frontal bossing Downslanted palpebral fissures Scrotal hypoplasia Short stature Syndactyly Clinodactyly Myelomeningocele Brachydactyly Renal agenesis Wide nose Oral cleft Underdeveloped nasal alae Bicornuate uterus Visual impairment Abnormality of the skeletal system Short neck Hypoplasia of penis Pectus excavatum Interphalangeal joint contracture of finger Calvarial skull defect Camptodactyly of finger Corneal opacity Oligohydramnios Hernia Brachycephaly Malar flattening Postaxial hand polydactyly Talipes Anophthalmia Choanal atresia Posteriorly rotated ears Dental malocclusion Bowing of the long bones Short nose Growth delay Coloboma Flexion contracture Postaxial polydactyly Abnormal facial shape Micropenis Craniosynostosis Blindness Abnormality of cardiovascular system morphology

Rare Symptoms - Less than 30% cases

Abnormality of the pinna Abnormality of the dentition Phocomelia Strabismus Respiratory insufficiency Eyelid coloboma Rectovaginal fistula Facial cleft Absent eyelashes Patent ductus arteriosus Glossoptosis Narrow mouth Wide mouth Microtia Renal hypoplasia/aplasia Tracheoesophageal fistula Telecanthus Clitoral hypertrophy Proptosis Congenital pseudoarthrosis of the clavicle Bifid uvula Short philtrum Abnormality of the kidney Epicanthus Intrauterine growth retardation Micromelia Hand oligodactyly High, narrow palate Split hand Elbow flexion contracture Anonychia Femoral bowing Oligodactyly Short ribs Fibular aplasia Cutaneous finger syndactyly Agenesis of corpus callosum Foot polydactyly Abnormality of the metacarpal bones Bilateral renal agenesis Aplasia/Hypoplasia of the phalanges of the hand Postnatal growth retardation Scoliosis Prominent forehead Broad hallux Radial bowing Pectus carinatum Congenital diaphragmatic hernia Depressed nasal ridge Broad thumb Accessory oral frenulum Hypoplastic toenails Hand polydactyly Aplasia of the ulna Anal stenosis Cleft ala nasi Abnormality of the middle ear Hepatic fibrosis Renal dysplasia Nystagmus Reduced number of teeth Urethral atresia Cryptophthalmos Macrocephaly Iris coloboma Wide pubic symphysis Feeding difficulties Muscular hypotonia Lacrimal duct aplasia Midline nasal groove Malformed lacrimal duct Generalized hypotonia Frontal encephalocele Patent foramen ovale Hypoplasia of the maxilla Umbilical hernia Laryngeal stenosis Vaginal atresia Atresia of the external auditory canal Wide intermamillary distance Subglottic stenosis Renal hypoplasia Omphalocele Dental crowding Preaxial hand polydactyly Cerebral cortical hemiatrophy Abnormality of the ear Mesomelia Overlapping fingers Absent testis Abnormal joint morphology Genu varum Rectal atresia Bilateral lung agenesis Aplasia/Hypoplasia of the mandible Laryngomalacia Short finger Occipital encephalocele Perineal fistula Subcortical cerebral atrophy Abnormal oral frenulum morphology Abnormality of the gingiva Hamartoma of tongue Hypoplastic ilia Abnormal oral mucosa morphology Tongue nodules Short 1st metacarpal Porencephalic cyst Hamartoma Abnormality of the tongue Short tibia Median cleft lip Primary adrenal insufficiency Submucous cleft hard palate Aplasia/Hypoplasia of the tibia Lobulated tongue Abnormality of the outer ear Congenital hip dislocation Joint dislocation Rectal fistula Aplasia/Hypoplasia involving the carpal bones Ureteral obstruction Anteriorly displaced genitalia Aplastic pubic bones Aplasia/Hypoplasia of the pubic bone Accessory carpal bones Pilonidal sinus Aplasia/Hypoplasia involving the pelvis Bulbous tips of toes Aplasia/Hypoplasia of the sacrum Acrania Humeroulnar synostosis Aplasia/Hypoplasia of metatarsal bones Aplasia/Hypoplasia of the phalanges of the toes Carpal bone aplasia Vertical clivus Irregular metacarpals Undulate clavicles Occipital meningocele Hypoplastic sacrum Decreased calvarial ossification Aplasia/hypoplasia of the femur Aplasia/Hypoplasia of the tarsal bones Lower limb phocomelia Broad face Ulnar bowing Limb undergrowth Short hallux Decreased testicular size Flared iliac wings Abnormality of eye movement Delayed closure of the anterior fontanelle Bilateral conductive hearing impairment Lethal skeletal dysplasia Wide nasal base Chordee Sclerosis of skull base Colonic stenosis Hypoplastic frontal sinuses Cerebral cortical atrophy Abnormality of the middle ear ossicles Abnormal vertebral segmentation and fusion Severe short stature Spondylolysis Recurrent respiratory infections Cerebral atrophy Bilateral coxa valga Rudimentary fibula Radial deviation of the 2nd finger Specific learning disability Growth hormone excess Oral synechia Thoracic hypoplasia Oligodontia Abnormality of the genitourinary system Short metatarsal Prominent supraorbital ridges Preaxial polydactyly Elbow dislocation Rocker bottom foot Hyperostosis Hydroureter Absent earlobe Intermittent thrombocytopenia Talipes equinovalgus Triangular mouth Broad clavicles Craniofacial dysostosis Congenital glaucoma Narrow naris Wrist flexion contracture Hydranencephaly Tibial bowing Coxa valga Bilateral radial aplasia Biliary tract abnormality Narrow chest Wide anterior fontanel Short thumb Large fontanelles Abnormality of the ribs Short metacarpal Short palm Flat face Confusion Genu valgum Wormian bones Tetraphocomelia Platyspondyly Broad forehead Abnormal cardiac septum morphology Hydronephrosis Respiratory failure Cerebellar hypoplasia Premature separation of centromeric heterochromatin Midface capillary hemangioma Enlarged labia minora Tarsal synostosis Long penis Microtia, third degree Atrial septal defect Blue sclerae Convex nasal ridge Prominent nasal bridge Sparse hair Paralysis Polyhydramnios Glaucoma Thrombocytopenia Thickened calvaria Synostosis of carpal bones Recurrent urinary tract infections Ventricular septal defect Increased bone mineral density Seizures Tracheomalacia Carpal synostosis Absent crus of helix Pierre-Robin sequence Anodontia Monorchism Abnormality of the genital system Cafe-au-lait spot Subvalvular aortic stenosis Fibular hypoplasia Bilateral cleft lip and palate Low hanging columella Bilateral cleft lip Upper limb undergrowth Shallow orbits Severe intrauterine growth retardation Ankle contracture Absent radius Pathologic fracture Cystic hygroma Horseshoe kidney Short femoral neck Bilateral talipes equinovarus Radial deviation of finger Polycystic kidney dysplasia Eosinophilia Melanoma Cranial nerve paralysis Opacification of the corneal stroma Abnormal heart valve morphology Knee flexion contracture Accessory spleen Thickened nuchal skin fold Aplasia/Hypoplasia involving the metacarpal bones Abnormal renal physiology Dysgenesis of the cerebellar vermis Episodic tachypnea Elongated superior cerebellar peduncle Hypoplastic male external genitalia Abnormality of ocular smooth pursuit Metopic synostosis Abnormal saccadic eye movements Rotary nystagmus Abnormal corpus callosum morphology Agenesis of cerebellar vermis Neonatal breathing dysregulation Central apnea Optic nerve coloboma Impaired smooth pursuit Congenital blindness Acute kidney injury Nephronophthisis External genital hypoplasia Molar tooth sign on MRI Hypoplasia of the brainstem Brainstem dysplasia Thickened superior cerebellar peduncle Abnormal electroretinogram Hypoplasia of the zygomatic bone Abnormal heart morphology Short face Narrow internal auditory canal Branchial fistula Multiple enchondromatosis Abnormality of bone mineral density Abnormality of the adrenal glands Thyroid hypoplasia Hypoplasia of the thymus Blepharospasm Enlarged fossa interpeduncularis Abnormality of the vertebral column Dysphasia Open bite Abnormality of dental morphology Abnormality of dental enamel Low anterior hairline Abnormality of the hair Preauricular skin tag Noncommunicating hydrocephalus Chorioretinal coloboma Oculomotor apraxia Abnormality of the urinary system Limb-girdle muscular dystrophy Abnormality of the sense of smell Lacrimal duct stenosis Diastema Hypoplasia of teeth Lacrimation abnormality Hyposmia Hypoplastic labia majora Agenesis of permanent teeth Preauricular pit Anosmia Aplasia of the nose Hypogonadotrophic hypogonadism Primary amenorrhea Broad nasal tip Delayed puberty Synophrys Muscular dystrophy Hypogonadism Inguinal hernia Edema Aplasia/Hypoplasia involving the nose Absent paranasal sinuses Apraxia Renal insufficiency Dandy-Walker malformation Esotropia Abnormal cerebellum morphology Retinal dystrophy Abnormality of the foot Dolichocephaly Retinopathy Camptodactyly Neonatal hypotonia Ataxia Low-set, posteriorly rotated ears Female pseudohermaphroditism Abnormal vagina morphology Abnormal hair pattern Bifid tongue Ectopic anus Tracheal stenosis Abnormal lung lobation External ear malformation Vertebral segmentation defect Multicystic kidney dysplasia Cutaneous syndactyly Cupped ear Elbow ankylosis Craniofacial asymmetry Protruding ear Macrotia Hypoplastic nasal tip Split nail Hemihypotrophy of lower limb Duplication of the distal phalanx of the thumb Unilateral breast hypoplasia Therapeutic abortion Axillary pterygium Ridged fingernail Long face Decreased hip abduction Midline defect of the nose Broad finger Abnormality of hair texture Breast hypoplasia Anterior plagiocephaly Abnormality of the rib cage Aplasia/Hypoplasia of the nipples Bifid nasal tip Hip dislocation Short foot Broad hallux phalanx Barrel-shaped chest Long ear Prominent sternum Foot oligodactyly Humeroradial synostosis Aplasia of the uterus Abnormality of tibia morphology Broad ribs Hypoplastic pelvis Single umbilical artery Broad neck Nail dysplasia Meningocele Hypoplastic nipples Ectrodactyly Disproportionate short stature Unilateral renal agenesis Hypoplasia of the radius Narrow palate Hemivertebrae Hydrops fetalis Small nail Ridged nail Widow's peak Absent eyebrow Abnormality of the nares Aplasia/Hypoplasia of the sternum Extension of hair growth on temples to lateral eyebrow Laryngeal atresia Abnormality of the small intestine Severe T-cell immunodeficiency Hypoplastic superior helix Morphological abnormality of the middle ear Laryngeal web Difficulty in tongue movements Abnormality of the thymus Sensorineural hearing impairment Upper eyelid coloboma Abnormality of the anus Bilateral microphthalmos Gonadoblastoma Abnormal cortical gyration Choanal stenosis Postaxial foot polydactyly Gonadal dysgenesis Aplasia/Hypoplasia of the thumb Abnormality of the umbilicus Ventriculomegaly Woolly hair Pterygium Fragile nails Down-sloping shoulders Coronal craniosynostosis Abnormality of the clavicle Sprengel anomaly Shawl scrotum Curly hair Abnormality of digit Bilateral cryptorchidism Sandal gap Hypoplasia of the corpus callosum Plagiocephaly Exotropia Low posterior hairline Webbed neck Joint hyperflexibility Facial asymmetry Hyperlordosis Joint laxity High forehead Clinodactyly of the 5th finger Nonossified fifth metatarsal


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