High palate, and Microtia

Diseases related with High palate and Microtia

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

Top matches:

High match COG1-CDG

COG1-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism.

COG1-CDG Is also known as congenital disorder of glycosylation type iig|cdgii/cog1 cerebrocostomandibular-like syndrome|cdg iig|cdg2g|cdg-iig|congenital disorder of glycosylation type 2g|cdgiig|carbohydrate deficient glycoprotein syndrome type iig|cdg syndrome type iig

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about COG1-CDG

Sweeney-Cox syndrome is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears (Kim et al., 2017).

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about SWEENEY-COX SYNDROME; SWCOS

cblF type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.

METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF Is also known as cobalamin, defect in lysosomal release of|cobalamin f defect|combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblf|cblf|vitamin b12 storage disease|vitamin b12 lysosomal release defect|methylmalonic aciduria due to vitamin b12-rele

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF

Other less relevant matches:

Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia.

BARBER-SAY SYNDROME Is also known as bss|hypertrichosis-atrophic skin-ectropion-macrostomia syndrome|hypertrichosis, atrophic skin, ectropion, and macrostomia

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BARBER-SAY SYNDROME

NEURODEVELOPMENTAL DISORDER-CRANIOFACIAL DYSMORPHISM-CARDIAC DEFECT-HIP DYSPLASIA SYNDROME DUE TO A POINT MUTATION Is also known as au-kline syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER-CRANIOFACIAL DYSMORPHISM-CARDIAC DEFECT-HIP DYSPLASIA SYNDROME DUE TO A POINT MUTATION

MRD57 is an autosomal dominant neurodevelopmental disorder with a highly variable phenotype. Most affected individuals have delayed psychomotor development apparent in infancy or early childhood, language delay, and behavioral abnormalities. Additional features may include hypotonia, feeding problems, gastrointestinal issues, and dysmorphic facial features (summary by Reijnders et al., 2018).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 57; MRD57

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about MEIER-GORLIN SYNDROME 7; MGORS7

EVEN-PLUS syndrome is characterized by prenatal-onset short stature, vertebral and epiphyseal changes, microtia, midface hypoplasia with flat nose and triangular nares, cardiac malformations, and other findings including anal atresia, hypodontia, and aplasia cutis. The features overlap those reported in patients with CODAS syndrome ({600373}; Royer-Bertrand et al., 2015).

EVEN-PLUS SYNDROME Is also known as epiphysial-vertebral-ear dysplasia-nose-plus associated findings syndrome|epiphyseal and vertebral dysplasia, microtia, and flat nose, plus associated malformations

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about EVEN-PLUS SYNDROME

High match BOR SYNDROME

Branchiootorenal (BOR) syndrome is characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts).

BOR SYNDROME Is also known as melnick-fraser syndrome|branchiootorenal syndrome|branchiootorenal dysplasia

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about BOR SYNDROME

The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures.

2Q23.1 MICRODELETION SYNDROME Is also known as pseudo-angelman syndrome|del(2)(q23.1)|monosomy 2q23.1

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 2Q23.1 MICRODELETION SYNDROME

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

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape Hearing impairment Cryptorchidism Low-set ears Craniosynostosis Cupped ear Thin upper lip vermilion Feeding difficulties Narrow mouth Cleft palate Micrognathia Microcephaly Hypertelorism Myopia Anal atresia Delayed speech and language development Midface retrusion Brachycephaly Vesicoureteral reflux Ptosis Abnormality of the pinna Underdeveloped nasal alae Generalized hirsutism Long face Seizures Hyperactivity Constipation Scoliosis Strabismus Failure to thrive Short neck Muscular hypotonia Talipes equinovarus Wide nasal bridge Postnatal growth retardation

Rare Symptoms - Less than 30% cases

Retrognathia Downslanted palpebral fissures Attention deficit hyperactivity disorder Low anterior hairline Downturned corners of mouth Hip dysplasia Open mouth Overlapping toe Feeding difficulties in infancy Epicanthus Anteverted nares Hypospadias Ataxia Ventricular septal defect Conductive hearing impairment Telecanthus Posteriorly rotated ears Wide mouth Abnormality of the skeletal system Bulbous nose Microdontia Hypertrichosis Depressed nasal ridge Atresia of the external auditory canal Inverted nipples Autism Abnormality of the skin Autistic behavior Flat face Wide anterior fontanel Short nose Atrial septal defect Pulmonary hypoplasia Gastroesophageal reflux Progressive microcephaly Hirsutism Synophrys Choanal atresia Highly arched eyebrow Renal hypoplasia Oligohydramnios Complete atrioventricular canal defect Hydronephrosis Abnormality of the dentition Depressed nasal bridge Urethral stricture Polycystic kidney dysplasia Renal hypoplasia/aplasia Multicystic kidney dysplasia Duodenal stenosis Facial palsy Congenital hip dislocation Abnormality of the kidney Bifid uvula Intestinal malrotation Aplasia/Hypoplasia of the patella Patellar hypoplasia Thin eyebrow Anterior plagiocephaly Renal agenesis Bilateral sensorineural hearing impairment Atrial fibrillation Renal dysplasia Preauricular skin tag Narrow face Paralysis Delayed skeletal maturation Inflammatory abnormality of the skin Preauricular pit Recurrent urinary tract infections Abnormality of the outer ear Hypodontia Deep philtrum Patent foramen ovale Epiphyseal dysplasia Metaphyseal dysplasia Aplasia cutis congenita Hypoplasia of the odontoid process Atopic dermatitis Bifid nasal tip Coronal cleft vertebrae Anotia Microphthalmia Vertebral clefting Dysplastic corpus callosum Sparse hair Neonatal hypotonia Hypoplastic helices High forehead Dysplasia of the femoral head Severe short stature Sensorineural hearing impairment Dysphagia Hydrocephalus Agenesis of corpus callosum Renal insufficiency Epiphora Abnormal isoelectric focusing of serum transferrin Ectopic kidney Thick eyebrow Esotropia Prominent nose Sleep disturbance Short foot Everted lower lip vermilion Small hand Short palm Astigmatism Febrile seizures Facial asymmetry Hypermetropia Broad forehead Protruding ear Aggressive behavior EEG abnormality Coarse facial features Focal-onset seizure Epileptic encephalopathy Clinodactyly of the 5th finger Focal impaired awareness seizure Paroxysmal bursts of laughter Hemifacial hypoplasia Macrodontia Short attention span Polyphagia Self-injurious behavior Language impairment Tented upper lip vermilion Hypoplasia of penis Infantile muscular hypotonia Widely spaced teeth Sandal gap Absence seizures Short chin Finger clinodactyly Stereotypy Dental crowding Gait ataxia Clinodactyly Premature graying of hair Abnormality of the middle ear ossicles Hypoplasia of the cochlea Cochlear malformation Renal malrotation Branchial fistula Arteria lusoria Branchial cyst Body odor Bilateral renal agenesis Bilateral renal dysplasia Coronal craniosynostosis Overbite Lacrimal duct stenosis Ureteropelvic junction obstruction Lacrimation abnormality Stenosis of the external auditory canal External ear malformation Mixed hearing impairment Renal steatosis Unilateral renal hypoplasia Encephalopathy Visual impairment Malar flattening Behavioral abnormality Vomiting Intellectual disability, severe Frontal bossing Fever Motor delay Gustatory lacrimation Euthyroid goiter Enlarged cochlear aqueduct Cholesteatoma Dilatated internal auditory canal Incomplete partition of the cochlea type II Abnormal lacrimal duct morphology Abnormality of the cerebrum Abnormality of the renal collecting system Lacrimal duct aplasia Sagittal craniosynostosis Pointed chin Arnold-Chiari type I malformation Macrocytic anemia Methylmalonic acidemia Homocystinuria Methylmalonic aciduria Stomatitis Juvenile rheumatoid arthritis Megaloblastic anemia Rheumatoid arthritis Hyperhomocystinemia Incoordination Psychosis Pancytopenia Aciduria Neutropenia Lethargy Glossitis Decreased methylcobalamin Skin rash High, narrow palate Abnormality of the face Abnormality of the genital system Dental malocclusion Ectodermal dysplasia Triangular face Delayed eruption of teeth Thin vermilion border Megaloblastic bone marrow Dry skin Rigidity Mandibular prognathia Cystathioninemia Cystathioninuria Decreased methionine synthase activity Decreased adenosylcobalamin Small for gestational age Developmental regression Cutis laxa Rhizomelia Cutaneous syndactyly Low-set, posteriorly rotated ears Smooth philtrum Talipes Narrow chest Short philtrum Cerebellar hypoplasia Intellectual disability, moderate Coxa valga Syndactyly Failure to thrive in infancy Vertebral segmentation defect Pierre-Robin sequence Enlarged cisterna magna Overfolded helix Bilateral talipes equinovarus Arthritis Upper eyelid coloboma Acidosis Abnormal heart morphology Thrombocytopenia Kyphoscoliosis Anemia Osteopenia Median cleft palate Long fingers Velopharyngeal insufficiency Widow's peak Asplenia Short columella Broad neck Short clavicles Prominent metopic ridge Sparse and thin eyebrow Hyperextensible skin Anal stenosis Upslanted palpebral fissure Broad nasal tip Joint hypermobility Prominent nasal bridge Blepharophimosis Anxiety Pes planus Kyphosis Recurrent otitis media Diarrhea Brachydactyly Flexion contracture Hypertension Wide nasal ridge Sparse lateral eyebrow Otitis media Hoarse voice Long palpebral fissure Decreased body weight Mild short stature 2-3 toe syndactyly Bowing of the legs Clubbing Clitoral hypertrophy Preaxial polydactyly Joint laxity Butterfly vertebrae Proptosis Micropenis Tall chin Microtia, first degree Hyperventilation Toe walking Obsessive-compulsive behavior Thickened nuchal skin fold Oligodontia Dermal atrophy Shawl scrotum Breast aplasia Sparse or absent eyelashes Gingival fibromatosis Absent nipple Skin tags Taurodontia Hypoplastic nipples Generalized hypertrichosis Aplasia/Hypoplasia of the skin Long nose Aplasia/Hypoplasia of the eyebrow Ectropion Sparse eyebrow Redundant skin Broad alveolar ridges Abnormality of female external genitalia Bicuspid aortic valve Abnormal cardiac septum morphology Sacral dimple Wide intermamillary distance Postaxial polydactyly Poor speech Dolichocephaly Neurological speech impairment Polydactyly Mild hearing impairment Hyporeflexia Pectus excavatum Pain Long philtrum Abnormality of male external genitalia Ablepharon Frontal hirsutism Abnormality of lower lip


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