High palate, and Coarctation of aorta

Diseases related with High palate and Coarctation of aorta

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

Top matches:

Medium match HYDRANENCEPHALY

Kabuki syndrome is a congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids (reminiscent of the make-up of actors of Kabuki, a Japanese traditional theatrical form), a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy (Niikawa et al., 1981).For a discussion of genetic heterogeneity of Kabuki syndrome, see KABUK1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYDRANENCEPHALY

Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities of the brain, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME 3; GAMOS3

The fetal akinesia/hypokinesia sequence (or Pena-Shokeir syndrome type I) is characterized by multiple joint contractures, facial anomalies and pulmonary hypoplasia. Whatever the cause, the common feature of this sequence is decreased foetal activity.

FETAL AKINESIA DEFORMATION SEQUENCE Is also known as arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome|arthrogryposis multiplex congenita with pulmonary hypoplasia|fads|pena-shokeir syndrome type 1|fetal akinesia sequence|pena-shokeir syndrome, type i

Related symptoms:

  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about FETAL AKINESIA DEFORMATION SEQUENCE

Other less relevant matches:

1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome.

1Q21.1 MICRODELETION SYNDROME Is also known as monosomy 1q21.1|del(1)(q21)

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about 1Q21.1 MICRODELETION SYNDROME

Medium match KABUKI SYNDROME

Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency.

KABUKI SYNDROME Is also known as kabuki make-up syndrome|niikawa-kuroki syndrome

Related symptoms:

  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about KABUKI SYNDROME

Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence (see this term) comprising micrognathia, cleft palate and glossoptosis.

CATEL-MANZKE SYNDROME Is also known as index finger anomaly-pierre robin syndrome|index finger anomaly with pierre robin syndrome|pierre robin syndrome-hyperphalangy-clinodactyly syndrome|micrognathia digital syndrome|palatodigital syndrome, catel-manzke type|pierre robin syndrome with hyperph

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about CATEL-MANZKE SYNDROME

45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development.

45,X/46,XY MIXED GONADAL DYSGENESIS Is also known as 45,x0/46,xy mgd|45,x0/46,xy mixed gonadal dysgenesis|45,x/46,xy mgd

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Nystagmus
  • Micrognathia


SOURCES: ORPHANET MENDELIAN

More info about 45,X/46,XY MIXED GONADAL DYSGENESIS

Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by Landowski et al., 2013). Genetic Heterogeneity of Diamond-Blackfan AnemiaA locus for DBA (DBA2 ) has been mapped to chromosome 8p23-p22. Other forms of DBA include DBA3 (OMIM ), caused by mutation in the RPS24 gene (OMIM ) on 10q22; DBA4 (OMIM ), caused by mutation in the RPS17 gene (OMIM ) on 15q; DBA5 (OMIM ), caused by mutation in the RPL35A gene (OMIM ) on 3q29; DBA6 (OMIM ), caused by mutation in the RPL5 gene (OMIM ) on 1p22.1; DBA7 (OMIM ), caused by mutation in the RPL11 gene (OMIM ) on 1p36; DBA8 (OMIM ), caused by mutation in the RPS7 gene (OMIM ) on 2p25; DBA9 (OMIM ), caused by mutation in the RPS10 gene (OMIM ) on 6p; DBA10 (OMIM ), caused by mutation in the RPS26 (OMIM ) gene on 12q; DBA11 (OMIM ), caused by mutation in the RPL26 gene (OMIM ) on 17p13; DBA12 (OMIM ), caused by mutation in the RPL15 gene (OMIM ) on 3p24; DBA13 (OMIM ), caused by mutation in the RPS29 gene (OMIM ) on 14q; DBA14 (OMIM ), caused by mutation in the TSR2 gene (OMIM ) on Xp11; DBA15 (OMIM ), caused by mutation in the RPS28 gene (OMIM ) on 19p13; DBA16 (OMIM ), caused by mutation in the RPL27 gene (OMIM ) on chromosome 17q21; and DBA17 (OMIM ), caused by mutation in the RPS27 gene (OMIM ) on chromosome 1q21.Boria et al. (2010) reviewed the molecular basis of Diamond-Blackfan anemia, emphasizing that it is a disorder of defective ribosome synthesis.Gazda et al. (2012) completed a large-scale screen of 79 ribosomal protein genes in families with Diamond-Blackfan anemia and stated that of the 10 known DBA-associated genes, RPS19 accounts for approximately 25% of patients; RPS24, 2%; RPS17, 1%; RPL35A, 3.5%; RPL5, 6.6%; RPL11, 4.8%; RPS7, 1%; RPS10, 6.4%; RPS26, 2.6%; and RPL26, 1%. Gazda et al. (2012) stated that in total these mutations account for approximately 54% of all DBA patients.In a study of 98 Japanese patients with DBA, Wang et al. (2015) detected probable causative mutations or large deletions in ribosomal protein genes in 56 (55%) of the patients, involving the RPS19 gene in 16 patients, RPL5 in 12, RPS17 in 7, RPL35A in 7, RPL11 in 5, and RPS26 in 4; RPS7, RPS10, RPL27, and RPS27 were each mutated in 1 patient.

DIAMOND-BLACKFAN ANEMIA 1; DBA1 Is also known as red cell aplasia, pure, hereditary|anemia, congenital erythroid hypoplastic|dba|blackfan-diamond syndrome|anemia, congenital hypoplastic, of blackfan and diamond|bds|erythrogenesis imperfecta|aase-smith syndrome ii|aregenerative anemia, chronic congenital

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 1; DBA1

Andersen-Tawil syndrome is an autosomal dominant multisystem channelopathy characterized by periodic paralysis, ventricular arrhythmias, and distinctive dysmorphic facial or skeletal features. Hypoplastic kidney and valvular heart disease have also been reported. The disorder shows marked intrafamilial variability and incomplete penetrance (summary by Davies et al., 2005).

ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS Is also known as ats|andersen syndrome|long qt syndrome 7|periodic paralysis, potassium-sensitive cardiodysrhythmic type|lqt7|andersen-tawil syndrome

Related symptoms:

  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS

Features of the Opitz GBBB syndrome include hypertelorism or telecanthus; laryngotracheoesophageal cleft; clefts of lip, palate, and uvula; swallowing difficulty and hoarse cry; genitourinary defects, especially hypospadias in males and splayed labia majora in females; mental retardation; developmental delay; and congenital heart defects.The Opitz GBBB syndrome was earlier thought to be 2 separate X-linked syndromes called the G syndrome and the BBB syndrome; both were listed in the X-linked catalog as recently as the seventh edition of MIM (1986).The Opitz GBBB syndrome is genetically heterogeneous, with both autosomal dominant and X-linked (OMIM ) forms. Robin et al. (1996) compared the phenotypic features of the X-linked and autosomal forms. They found that anteverted nares and posterior pharyngeal cleft were seen only in the X-linked form. However, all other manifestations of the syndrome, such as hypertelorism, swallowing difficulties, hypospadias, and developmental delay, were seen in both forms.

OPITZ GBBB SYNDROME, TYPE II; GBBB2 Is also known as opitz bbbg syndrome|gbbb syndrome|hypospadias-dysphagia syndrome|hypertelorism-hypospadias syndrome|opitz-g syndrome, type ii|telecanthus-hypospadias syndrome|g syndrome|opitz oculogenitolaryngeal syndrome, type ii|ogs2|opitz-frias syndrome|opitz gbbb syn

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about OPITZ GBBB SYNDROME, TYPE II; GBBB2

Top 5 symptoms//phenotypes associated to High palate and Coarctation of aorta

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Cleft palate Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly

Common Symptoms - More than 50% cases

Strabismus

Uncommon Symptoms - Between 30% and 50% cases

Seizures Failure to thrive Abnormal facial shape Intrauterine growth retardation Intellectual disability Global developmental delay Coloboma Growth delay Generalized hypotonia Low-set ears Abnormal cardiac septum morphology Epicanthus Atrial septal defect Downslanted palpebral fissures Ventriculomegaly Edema Joint laxity Ankyloglossia Pectus excavatum Camptodactyly Flexion contracture Hydronephrosis Talipes equinovarus Short neck Hydrocephalus Posteriorly rotated ears Cleft upper lip Iris coloboma Joint hyperflexibility Ventricular septal defect Muscular hypotonia Wide nasal bridge Inguinal hernia Clinodactyly of the 5th finger Abnormality of cardiovascular system morphology Hypospadias Nystagmus Brachydactyly Highly arched eyebrow Decreased body weight Hearing impairment

Rare Symptoms - Less than 30% cases

Proptosis Unilateral cleft lip Malar flattening Clinodactyly Retrognathia Umbilical hernia Long philtrum Low-set, posteriorly rotated ears Slender long bone Cystic hygroma Recurrent otitis media Telecanthus Rocker bottom foot Long eyelashes Cavum septum pellucidum Dandy-Walker malformation Premature birth High, narrow palate Pulmonary hypoplasia Camptodactyly of finger Blepharophimosis Respiratory distress Sensorineural hearing impairment Abnormality of the skeletal system Behavioral abnormality Obesity Abnormality of the dentition Feeding difficulties Conductive hearing impairment Oral cleft Small hand Thin upper lip vermilion Vesicoureteral reflux Cardiac arrest Short foot Bulbous nose Congenital glaucoma Toe syndactyly Abnormal dermatoglyphics Autistic behavior Protruding ear Pulmonic stenosis Agenesis of corpus callosum Patent ductus arteriosus Depressivity Frontal bossing Hypodontia Short middle phalanx of finger Prolonged QT interval Short palpebral fissure Macrocephaly Narrow mouth Short columella Cleft lip Delayed skeletal maturation Microphthalmia Micropenis Tachycardia Depressed nasal tip Abnormal heart morphology Anteverted nares Short 5th finger Cerebellar hypoplasia Abnormality of the kidney Sparse lateral eyebrow Deeply set eye Bifid scrotum Eversion of lateral third of lower eyelids Hip dislocation Cerebral cortical atrophy Depressed nasal bridge Congestive heart failure Bicuspid aortic valve Ptosis Visual impairment Short metatarsal Webbed neck Intellectual disability, mild Ataxia Hypoplastic coccygeal vertebrae Hypoplastic sacral vertebrae Anemia Ovotestis Fever Muscle weakness Gait ataxia Short palm Vomiting Thrombocytopenia Facial asymmetry Broad forehead Paralysis Arrhythmia Pallor Syndactyly Fatigue Dyscalculia Glaucoma Penoscrotal hypospadias Pain Abnormality of the scrotum Hypoplastic anemia Transient erythroblastopenia Osteosarcoma Increased mean corpuscular volume Aplastic anemia Bone marrow hypocellularity 11 pairs of ribs Hypoplasia of the radius Abnormality of the hand Myelodysplasia Triphalangeal thumb Hypoplastic ilia Hydrops fetalis Delayed cranial suture closure Colon cancer Thrombocytosis Ovarian serous cystadenoma Macrocytic anemia Acute myeloid leukemia Muscle hypertrophy of the lower extremities Myeloid leukemia Anemia of inadequate production Short thumb Bifid thoracic vertebrae Lethargy Elevated red cell adenosine deaminase activity Absent thumb Persistence of hemoglobin F Branchial cyst Erythroid hypoplasia Partial duplication of thumb phalanx Leukemia Abnormal internal genitalia Cervix cancer Depressed nasal ridge Everted upper lip vermilion Narrow chest Nausea and vomiting Congenital hypoplastic anemia Nausea Neutropenia Parietal foramina Pancytopenia Reticulocytopenia Vertebral fusion Loss of consciousness Inability to walk Abnormality of the urinary system Prominent metopic ridge Anal stenosis Abnormality of the ureter Limb dystonia Weak cry Prominent occiput Tracheoesophageal fistula Oral-pharyngeal dysphagia Stridor Recurrent upper respiratory tract infections Hiatus hernia Laryngomalacia Anosmia Hoarse voice Aortic valve stenosis Aspiration Recurrent urinary tract infections Cerebellar vermis hypoplasia Pulmonary arterial hypertension Intestinal malrotation Bifid uvula Tracheomalacia Bilateral cleft lip Anal atresia Absent gallbladder Rectourethral fistula Posterior pharyngeal cleft Rectal atresia Vascular ring Laryngeal cleft Short lingual frenulum Hypoplasia of the epiglottis Hoarse cry Aplasia/Hypoplasia of the cerebellar vermis Cranial asymmetry Metopic synostosis Megalencephaly Inspiratory stridor Dilated fourth ventricle Sagittal craniosynostosis Bicornuate uterus Concave nasal ridge Widow's peak Enlarged cisterna magna Abnormality of the respiratory system Bilateral cleft lip and palate Diastasis recti Smooth philtrum Prominent nasal bridge Delayed eruption of teeth Scapular winging High pitched voice Ambiguous genitalia, female 2-3 toe syndactyly Preauricular pit Myotonia Hypokalemia Growth abnormality Ventricular arrhythmia Oligodontia Ventricular tachycardia Short chin Agenesis of permanent teeth Short phalanx of finger Hypoplasia of dental enamel Palpitations Tetraparesis Renal hypoplasia Specific learning disability Short metacarpal Syncope Triangular face Hypoplasia of the maxilla Hyperkalemia Long nose Cough Bidirectional ventricular ectopy Craniosynostosis Gastroesophageal reflux Prominent forehead Rod-cone dystrophy Constipation Hernia Dystonia Dysphagia Prominent U wave Prominent frontal sinuses Antegonial notching of mandible Abnormal heart valve morphology Periodic hyperkalemic paralysis Short mandibular rami Periodic hypokalemic paresis Clinodactyly of the 5th toe Toe clinodactyly Delayed eruption of permanent teeth Persistence of primary teeth Periodic paralysis Scaphocephaly Hyperthyroidism Streak ovary Talipes Epispadias Abnormality of pelvic girdle bone morphology Absent septum pellucidum Hypokinesia Generalized amyotrophy Thoracic hypoplasia Multiple joint contractures Akinesia Congenital contracture Pterygium Decreased fetal movement Fatigable weakness Arthrogryposis multiplex congenita Small for gestational age Polyhydramnios Polydactyly Kyphosis Respiratory insufficiency Skeletal muscle atrophy Peripheral neuropathy Thin ribs Anencephaly Diffuse mesangial sclerosis Short umbilical cord Aggressive behavior Anxiety Autism Hyperactivity Cataract Intestinal hypoplasia Absent palmar crease Small placenta Elbow ankylosis Abnormality of abdomen morphology Ulnar deviation of the hand or of fingers of the hand Thyroid hypoplasia Fractures of the long bones Hydranencephaly Ulnar deviation of the hand Overlapping fingers Excessive daytime somnolence Fetal akinesia sequence Adrenal hypoplasia Hypertensive crisis Hand clenching Attention deficit hyperactivity disorder Natal tooth Delayed speech and language development Spasticity Abnormality of the breast Prominent fingertip pads Long hallux Generalized joint laxity Neonatal hypoglycemia Central hypotonia Long palpebral fissure Cerebellar atrophy Atrioventricular canal defect Cupped ear Otitis media Dental malocclusion Broad nasal tip Hirsutism Feeding difficulties in infancy Severe short stature Hypoplasia of the corpus callosum Cerebral atrophy Corpus callosum atrophy Postnatal microcephaly Cortical gyral simplification Hypoplastic left heart Focal segmental glomerulosclerosis Glomerulosclerosis Hypoalbuminemia Lissencephaly Hypocalcemia Leukodystrophy Pachygyria Midface retrusion Nephrotic syndrome Oligohydramnios Sloping forehead Narrow forehead Convex nasal ridge Ichthyosis Stage 5 chronic kidney disease Arachnodactyly Proteinuria Intellectual disability, moderate Joint hypermobility Unilateral cryptorchidism Glossoptosis Oral synechia Prominent antihelix Knee dislocation Metatarsus valgus Overriding aorta Thin eyebrow Short hallux Pierre-Robin sequence Short humerus Ulnar deviation of the 2nd finger Dextrocardia Chronic otitis media Adducted thumb Narrow palpebral fissure Joint dislocation Finger clinodactyly Short toe Wide anterior fontanel Radial deviation of the 2nd finger Hyperphalangy of the 2nd finger Hypertrichosis Hallux valgus Urogenital sinus anomaly Chordee Ambiguous genitalia, male Decreased serum testosterone level Gonadoblastoma Short 4th metacarpal Increased circulating gonadotropin level Male infertility Bilateral cryptorchidism Hypothyroidism Cubitus valgus Azoospermia Horseshoe kidney Gynecomastia Low posterior hairline Ambiguous genitalia Wide intermamillary distance Nail dysplasia Delayed puberty Abnormality of epiphysis morphology Small nail Sleep disturbance Interrupted aortic arch Blue sclerae Congenital diaphragmatic hernia Hypoplasia of penis Microdontia Microcornea EEG abnormality Macrotia Recurrent infections Broad hallux phalanx Preauricular skin tag Truncus arteriosus Foot polydactyly Transposition of the great arteries High hypermetropia Broad hallux Hand polydactyly Schizophrenia Broad thumb Abnormal form of the vertebral bodies Hemivertebrae Full cheeks Crossed fused renal ectopia Single transverse palmar crease Short distal phalanx of finger Pectus carinatum Joint stiffness Postnatal growth retardation Abnormality of the pinna Upslanted palpebral fissure Lip pit Vertebral clefting Widely spaced teeth Duplicated collecting system Butterfly vertebrae Ureteropelvic junction obstruction Abnormal localization of kidney Abnormality of immune system physiology Mask-like facies Abnormality of dental morphology Precocious puberty Renal hypoplasia/aplasia Absent pulmonary artery


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