High palate, and Hypospadias

Diseases related with High palate and Hypospadias

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

Top matches:

McKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart disease or gastrointestinal malformations.

MCKUSICK-KAUFMAN SYNDROME Is also known as kaufman-mckusick syndrome|hydrometrocolpos-postaxial polydactyly syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Failure to thrive
  • Cleft palate


SOURCES: ORPHANET MENDELIAN

More info about MCKUSICK-KAUFMAN SYNDROME

Medium match BARBER-SAY SYNDROME

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

Other less relevant matches:

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 7 WITH OR WITHOUT POLYDACTYLY; SRTD7 Is also known as short rib-polydactyly syndrome, type v|srps5

Related symptoms:

  • Cleft palate
  • High palate
  • Epicanthus
  • Brachydactyly
  • Respiratory insufficiency


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY; SRTD7

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

Corpus callosum agenesis-abnormal genitalia syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by agenesis of the corpus callosum, mild to severe neurological manifestations (intellectual disability, developmental delay, epilepsy, dystonia), and urogenital anomalies (hypospadias, cryptorchidism, renal dysplasia, ambiguous genitalia). Additionally, skeletal anomalies (limb contractures, scoliosis), dysmorphic facial features (prominent supraorbital ridges, synophris, large eyes) and optic atrophy have been observed.

CORPUS CALLOSUM AGENESIS-ABNORMAL GENITALIA SYNDROME Is also known as proud syndrome|microcephaly-corpus callosum agenesis-abnormal genitalia syndrome|acc with abnormal genitalia|acc-abnormal genitalia syndrome|proud-levine-carpenter syndrome

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CORPUS CALLOSUM AGENESIS-ABNORMAL GENITALIA 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

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MEIER-GORLIN SYNDROME 7; MGORS7

6q terminal deletion syndrome is marked by a characteristic facial dysmorphism, short neck and psychomotor retardation, generally associated with a range of non-specific malformations.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about 6Q TERMINAL DELETION SYNDROME

The Opitz GBBB syndrome is a congenital midline malformation syndrome characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay, and cardiac defects (So et al., 2005).This disorder was first reported as 2 separate entities, BBB syndrome and G syndrome; subsequent reports of families in which the BBB and G syndromes segregated within a single kindred suggested that they represent a single entity. Genetic HeterogeneitySee also GBBB2 (OMIM ), caused by mutation in the SPECC1L gene (OMIM ) on chromosome 22q11.

OPITZ GBBB SYNDROME, TYPE I; GBBB1 Is also known as opitz bbbg syndrome, type i|opitz syndrome|os|opitz syndrome, x-linked|ogs1|hypertelorism-hypospadias syndrome|osx|telecanthus-hypospadias syndrome|opitz gbbb syndrome, x-linked|bbbg1|hypertelorism with esophageal abnormality and hypospadias|opitz-g syndr

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about OPITZ GBBB SYNDROME, TYPE I; GBBB1

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

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Cleft palate Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Hypertelorism Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Anal atresia Ventricular septal defect Failure to thrive Microcephaly Short stature Low-set ears Wide nasal bridge Scrotal hypoplasia Dental malocclusion Strabismus Micropenis Cleft lip Micrognathia Seizures Scoliosis Hearing impairment Oral cleft Low anterior hairline Pulmonary hypoplasia

Rare Symptoms - Less than 30% cases

Choanal atresia Atresia of the external auditory canal Abnormal facial shape Aplasia/Hypoplasia of the eyebrow Microphthalmia Respiratory insufficiency Anteverted nares Visual impairment Short neck Epicanthus Conductive hearing impairment Prominent metopic ridge Telecanthus Microtia Agenesis of permanent teeth Underdeveloped nasal alae Synophrys Generalized hirsutism Anophthalmia Prominent forehead Hirsutism High, narrow palate Joint laxity Abnormality of the genital system Broad alveolar ridges Microdontia Encephalocele 2-3 toe syndactyly Growth delay Low-set, posteriorly rotated ears Brachydactyly Atrial septal defect Patent ductus arteriosus Renal hypoplasia Finger syndactyly Abnormal hair pattern Multicystic kidney dysplasia Renal hypoplasia/aplasia Dolichocephaly Ectopic anus Abnormality of cardiovascular system morphology Urethral stricture Anal stenosis Cataract Agenesis of corpus callosum Inguinal hernia Edema Myopia Gait ataxia Cleft upper lip Hernia Nystagmus Syndactyly Wide intermamillary distance Motor delay Ambiguous genitalia Arnold-Chiari type I malformation Preaxial polydactyly Midline nasal groove Clitoral hypertrophy Malformed lacrimal duct Decreased body weight Narrow mouth Progressive microcephaly Mild short stature Craniosynostosis Bowing of the legs Wide anterior fontanel Clubbing Vesicoureteral reflux Proptosis Tracheal stenosis Lacrimal duct aplasia External ear malformation Abnormality of the hip bone Infantile spasms Abnormally large globe Limb joint contracture Hyperconvex nail Depressed nasal bridge Blindness Umbilical hernia Toe syndactyly Hypoplasia of penis Omphalocele Dental crowding Vertebral segmentation defect Abnormal lung lobation Wide pubic symphysis Myelomeningocele Sagittal craniosynostosis Calvarial skull defect Bifid tongue Bicornuate uterus Vaginal atresia Abnormal vagina morphology Subglottic stenosis Laryngeal stenosis Abnormality of the middle ear Female pseudohermaphroditism Urethral atresia Cryptophthalmos Cleft ala nasi Coronal craniosynostosis Highly arched eyebrow Complete atrioventricular canal defect Smooth philtrum Aspiration Large fontanelles Recurrent urinary tract infections Congenital diaphragmatic hernia Intestinal malrotation Hypodontia Pectus carinatum Increased number of teeth Thin upper lip vermilion Gastroesophageal reflux Posteriorly rotated ears Pneumonia Abnormal heart morphology Pectus excavatum Abnormality of the voice Double outlet right ventricle Frontal bossing Right aortic arch Osteoma Exstrophy Recurrent aspiration pneumonia Bladder exstrophy Intestinal lymphangiectasia Abnormality of the nasopharynx Chylothorax Bilateral cleft lip Abnormality of the pharynx Volvulus Pulmonary artery atresia Widow's peak Hydrocele testis Bilateral cleft lip and palate Aspiration pneumonia Dysphagia Downslanted palpebral fissures Thin eyebrow Intellectual disability, mild Hypermetropia Abnormality of the cerebral white matter Hyperkeratosis Cerebellar hypoplasia Clinodactyly Obesity Hypoplasia of the corpus callosum Polymicrogyria Macrocephaly Delayed speech and language development Duodenal stenosis Aplasia/Hypoplasia of the patella Patellar hypoplasia Anterior plagiocephaly Dysmetria Thick vermilion border Sensorineural hearing impairment Broad philtrum Abnormality of the cerebral cortex Aplasia/Hypoplasia of the ribs Phimosis Periventricular gray matter heterotopia Talipes calcaneovalgus Colpocephaly Hallux valgus Prominent supraorbital ridges Abnormality of neuronal migration Infantile muscular hypotonia Plagiocephaly Gynecomastia Heterotopia Short palpebral fissure Hypsarrhythmia Overlapping toe Hypogonadotrophic hypogonadism Lissencephaly Long nose Ectodermal dysplasia Abnormality of the skin Hypertrichosis Depressed nasal ridge Abnormality of the face Sparse and thin eyebrow Cutis laxa Hyperextensible skin Dermal atrophy Redundant skin Sparse eyebrow Ectropion Cupped ear Aplasia/Hypoplasia of the skin Delayed eruption of teeth Hypoplastic nipples Shawl scrotum Inverted nipples Taurodontia Skin tags Absent nipple Gingival fibromatosis Sparse or absent eyelashes Breast aplasia Generalized hypertrichosis Abnormality of female external genitalia Mild hearing impairment Frontal hirsutism Ablepharon Triangular face Bulbous nose Renal insufficiency Retrognathia Hydronephrosis Tetralogy of Fallot Postaxial hand polydactyly Aganglionic megacolon Abnormality of the metacarpal bones Hypoplastic left heart Tarsal synostosis Postaxial foot polydactyly Urogenital sinus anomaly Hydrometrocolpos Glandular hypospadias Feeding difficulties Intrauterine growth retardation Autism Astigmatism Thin vermilion border Hypotelorism Rhizomelia Coxa valga Accelerated skeletal maturation Metaphyseal widening Scaphocephaly Obstructive sleep apnea Broad femoral neck Talipes equinovarus Mandibular prognathia Rigidity Abnormality of the pinna Wide mouth Dry skin Abnormality of male external genitalia Polydactyly Intellectual disability, progressive Aplasia of the nose Primary amenorrhea Anosmia Reduced number of teeth Limb-girdle muscular dystrophy Preauricular pit Hypoplastic labia majora Hyposmia Lacrimation abnormality Hypoplasia of teeth Diastema Lacrimal duct stenosis Abnormality of the sense of smell Aplasia/Hypoplasia involving the nose Frontal encephalocele Absent paranasal sinuses Hypoplasia of the maxilla Spasticity Flexion contracture Optic atrophy Intellectual disability, severe Hyperactivity Cerebral cortical atrophy Coarse facial features Neonatal hypotonia Protruding ear Severe global developmental delay Tapered finger Tetraplegia Spastic tetraplegia Renal dysplasia Broad nasal tip Iris coloboma Sparse hair Polycystic kidney dysplasia Narrow chest Micromelia Hepatic failure Short distal phalanx of finger Postaxial polydactyly Renal cyst Ascites Nail dysplasia Limb undergrowth Fine hair Bowing of the long bones Hydrops fetalis Short ribs Short long bone Thoracic hypoplasia Delayed puberty Mesomelia Cystic hygroma Hypoplastic scapulae Flat acetabular roof Thoracic dysplasia Bilateral postaxial polydactyly Short lingual frenulum Fused teeth Short uvula Midface retrusion Hypogonadism Coloboma Corneal opacity Muscular dystrophy Posterior pharyngeal cleft


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