Cleft palate, and Pulmonic stenosis

Diseases related with Cleft palate and Pulmonic stenosis

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


Top matches:

Medium match SERKAL SYNDROME


SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterised by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs.

SERKAL SYNDROME Is also known as serkal syndrome|sex reversion-kidneys, adrenal and lung dysgenesis syndrome

Related symptoms:

  • Growth delay
  • Cleft palate
  • Low-set ears
  • Intrauterine growth retardation
  • Ventricular septal defect


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SERKAL SYNDROME

Medium match HETEROTAXY, VISCERAL, 1, X-LINKED; HTX1


HeterotaxyHeterotaxy ('heter' meaning 'other' and 'taxy' meaning 'arrangement'), or situs ambiguus, is a developmental condition characterized by randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another (Srivastava, 1997). Heterotaxy is a clinically and genetically heterogeneous disorder. Multiple Types of Congenital Heart DefectsCongenital heart defects (CHTD) are among the most common congenital defects, occurring with an incidence of 8/1,000 live births. The etiology of CHTD is complex, with contributions from environmental exposure, chromosomal abnormalities, and gene defects. Some patients with CHTD also have cardiac arrhythmias, which may be due to the anatomic defect itself or to surgical interventions (summary by van de Meerakker et al., 2011). ReviewsObler et al. (2008) reviewed published cases of double-outlet right ventricle and discussed etiology and associations. Genetic Heterogeneity of Visceral HeterotaxySee also HTX2 (OMIM ), caused by mutation in the CFC1 gene (OMIM ) on chromosome 2q21; HTX3 (OMIM ), which maps to chromosome 6q21; HTX4 (OMIM ), caused by mutation in the ACVR2B gene (OMIM ) on chromosome 3p22; HTX5 (OMIM ), caused by mutation in the NODAL gene (OMIM ) on chromosome 10q22; HTX6 (OMIM ), caused by mutation in the CCDC11 gene (OMIM ) on chromosome 18q21; HTX7 (OMIM ), caused by mutation in the MMP21 gene (OMIM ) on chromosome 10q26; and HTX8 (OMIM ), caused by mutation in the PKD1L1 gene (OMIM ) on chromosome 7p12. Genetic Heterogeneity of Multiple Types of Congenital Heart DefectsAn X-linked form of CHTD, CHTD1, is caused by mutation in the ZIC3 gene on chromosome Xq26. CHTD2 (OMIM ) is caused by mutation in the TAB2 gene (OMIM ) on chromosome 6q25. A form of nonsyndromic congenital heart defects associated with cardiac rhythm and conduction disturbances (CHTD3 ) has been mapped to chromosome 9q31. CHTD4 (OMIM ) is caused by mutation in the NR2F2 gene (OMIM ) on chromosome 15q26. CHTD5 (OMIM ) is caused by mutation in the GATA5 gene (OMIM ) on chromosome 20q13. CHTD6 (OMIM ) is caused by mutation in the GDF1 gene (OMIM ) on chromosome 19p13.

HETEROTAXY, VISCERAL, 1, X-LINKED; HTX1 Is also known as situs inversus, complex cardiac defects, and splenic defects, x-linked|laterality, x-linked|dextrocardia with other cardiac malformations

Related symptoms:

  • Hypertelorism
  • Failure to thrive
  • Cleft palate
  • Ventricular septal defect
  • Atrial septal defect


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about HETEROTAXY, VISCERAL, 1, X-LINKED; HTX1

Medium match LYMPHEDEMA, HEREDITARY, IA; LMPH1A


Hereditary primary lymphedema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts. There may be accompanying nail and skin changes, such as nail dysplasia or papillomatosis. Onset is usually at birth or in early childhood but can occur later, and the severity is variable (summary by Gordon et al., 2013 and Balboa-Beltran et al., 2014). Genetic Heterogeneity of Hereditary Primary LymphedemaPrimary lymphedema is genetically heterogeneous: see also LMPH1B (OMIM ), which maps to chromosome 6q16.2-q22.1; LMPH1C (OMIM ), caused by mutation in the GJC2 gene (OMIM ) on chromosome 1q42; and LMPH1D (OMIM ), caused by mutation in the VEGFC gene (OMIM ) on chromosome 4q34. Hereditary lymphedema III (LMPH3 ) is caused by mutaiton in the PIEZO1 gene (OMIM ) on chromosome 16q24.Also see hereditary lymphedema type II (OMIM ), also known as Meige lymphedema.Lymphedema can also be a feature of syndromic disorders such as lymphedema-distichiasis syndrome (OMIM ), which is caused by mutation in the FOXC2 gene (OMIM ).

LYMPHEDEMA, HEREDITARY, IA; LMPH1A Is also known as primary congenital lymphedema|pcl|nonne-milroy lymphedema|lymphedema, early-onset|milroy disease

Related symptoms:

  • Scoliosis
  • Strabismus
  • Cleft palate
  • Ptosis
  • Ventricular septal defect


SOURCES: OMIM MENDELIAN

More info about LYMPHEDEMA, HEREDITARY, IA; LMPH1A

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Other less relevant matches:

Medium match HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2; HPMRS2


Hyperphosphatasia with mental retardation syndrome-2 is an autosomal recessive disorder characterized by moderately to severely delayed psychomotor development, facial dysmorphism, brachytelephalangy, and increased serum alkaline phosphatase (hyperphosphatasia). Some patients may have additional features, such as cardiac septal defects or seizures (summary by Krawitz et al., 2012). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.For a discussion of genetic heterogeneity of hyperphosphatasia with mental retardation syndrome, see HPMRS1 (OMIM ).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2; HPMRS2 Is also known as glycosylphosphatidylinositol biosynthesis defect 6|gpibd6

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2; HPMRS2

Medium 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

Medium match CRANIOLENTICULOSUTURAL DYSPLASIA


Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia.

CRANIOLENTICULOSUTURAL DYSPLASIA Is also known as boyadjiev-jabs syndrome

Related symptoms:

  • Short stature
  • Scoliosis
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CRANIOLENTICULOSUTURAL DYSPLASIA

Medium match ANEURYSM-OSTEOARTHRITIS SYNDROME


ANEURYSM-OSTEOARTHRITIS SYNDROME Is also known as loeys-dietz syndrome with osteoarthritis|loeys-dietz syndrome, type 1c, formerly|lds1c, formerly|aneurysms-osteoarthritis syndrome

Related symptoms:

  • Scoliosis
  • Hypertelorism
  • Cleft palate
  • Pain
  • High palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about ANEURYSM-OSTEOARTHRITIS SYNDROME

Medium match HOLOPROSENCEPHALY 9; HPE9


Holoprosencephaly-9 refers to a disorder characterized by a wide phenotypic spectrum of brain developmental defects, with or without overt forebrain cleavage abnormalities. It usually includes midline craniofacial anomalies involving the first branchial arch and/or orbits, pituitary hypoplasia with panhypopituitarism, and postaxial polydactyly. The disorder shows incomplete penetrance and variable expressivity (summary by Roessler et al., 2003 and Bertolacini et al., 2012).For general phenotypic information and a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 (OMIM ).

HOLOPROSENCEPHALY 9; HPE9 Is also known as holoprosencephaly with microphthalmia and first branchial arch anomalies|pituitary anomalies with holoprosencephaly-like features

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Cryptorchidism


SOURCES: OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 9; HPE9

Medium match CORNELIA DE LANGE SYNDROME 3; CDLS3


Cornelia de Lange syndrome is a multisystem developmental disorder characterized by distinctive facial dysmorphism, pre- and postnatal growth failure, delayed psychomotor development and intellectual disability, hypertrichosis, and sometimes distal limb malformations (summary by Gil-Rodriguez et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of Cornelia de Lange syndrome, see {122470}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 3; CDLS3

Medium match SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES; SSFSC


Patients with SSFSC have short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies. Distinctive facial features include midface retrusion, short upturned nose, long philtrum, high-arched or cleft palate, and variable degrees of micrognathia and dental crowding. Skeletal anomalies include patterning defects of the axial skeleton, characterized by 11 pairs of ribs and brachydactyly of the fifth ray. Congenital heart defects are variably observed and appear to involve primarily the cardiac outflow tract (Tan et al., 2017).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES; SSFSC

Top 5 symptoms//phenotypes associated to Cleft palate and Pulmonic stenosis

Symptoms // Phenotype % cases
Ventricular septal defect Uncommon - Between 30% and 50% cases
High palate Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cleft palate and Pulmonic stenosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hypertelorism Hearing impairment Atrial septal defect Thin upper lip vermilion Long philtrum Arrhythmia Growth delay Anteverted nares Pulmonary hypoplasia Microcephaly Global developmental delay Pes planus Midface retrusion

Rare Symptoms - Less than 30% cases


Inguinal hernia Osteoporosis Umbilical hernia Myopia Pectus excavatum Hernia Abnormality of the dentition Camptodactyly Abnormal cardiac septum morphology Short nose Wide nasal bridge Delayed speech and language development Generalized hypotonia Seizures Conductive hearing impairment Cryptorchidism Joint hyperflexibility Hypoplasia of the maxilla Synophrys Clinodactyly of the 5th finger Clinodactyly Brachydactyly Micrognathia Depressed nasal bridge Spondylolisthesis Dental malocclusion Abnormality of the skeletal system Thin vermilion border Arachnodactyly Smooth philtrum Prominent nasal bridge Joint laxity Gastroesophageal reflux Malar flattening Macrocephaly Hemangioma Soft skin Mitral valve prolapse Bruising susceptibility Intellectual disability Osteopenia Patent ductus arteriosus Oral cleft Abnormal heart morphology Cleft lip Failure to thrive Oligohydramnios Renal agenesis Holoprosencephaly Edema Low-set ears Ptosis Anal atresia Transposition of the great arteries Microtia Postaxial polydactyly Polydactyly Short philtrum Macrotia Micropenis Agenesis of corpus callosum Microphthalmia Hydrocephalus Growth hormone deficiency Photophobia Postaxial hand polydactyly Sloping forehead Coarctation of aorta Preauricular skin tag Hemivertebrae Optic nerve hypoplasia Patent foramen ovale Heart murmur Anophthalmia Neurodevelopmental delay Partial agenesis of the corpus callosum Median cleft lip Bilateral cleft lip Skin tags Bilateral cleft lip and palate Hypotelorism Knee osteoarthritis Respiratory distress Abnormality of the sternum Congenital diaphragmatic hernia Headache Dilatation Migraine Ventricular hypertrophy Atrial fibrillation Osteoarthritis Mitral regurgitation Left ventricular hypertrophy Aortic regurgitation Bicuspid aortic valve Back pain Aortic aneurysm Disproportionate tall stature Slender finger Large forehead Hip osteoarthritis Uterine prolapse Intervertebral disc degeneration Protrusio acetabuli Abdominal aortic aneurysm Dural ectasia Arterial tortuosity Thoracic aortic aneurysm Abnormal joint morphology Osteochondritis Dissecans Low back pain Aortic dissection Dilatation of the cerebral artery Subarachnoid hemorrhage Striae distensae Abnormal cortical gyration Wide cranial sutures Panhypopituitarism Palpitations Finger clinodactyly Proximal placement of thumb Cutis marmorata Thick hair Limited elbow movement Downslanted palpebral fissures Delayed skeletal maturation Posteriorly rotated ears Low-set, posteriorly rotated ears Apnea Broad forehead Tachycardia Everted lower lip vermilion Narrow forehead Dental crowding Long eyelashes Supraventricular tachycardia Prominent sternum Anterior open bite Perimembranous ventricular septal defect Short 5th metacarpal Wolff-Parkinson-White syndrome 11 pairs of ribs Pierre-Robin sequence Short toe Obstructive sleep apnea Proportionate short stature Sleep apnea Infantile muscular hypotonia Sandal gap Spina bifida occulta Low anterior hairline Hypertrichosis Anterior pituitary hypoplasia Diastolic heart murmur Median cleft lip and palate Forehead hyperpigmentation Single median maxillary incisor Semilobar holoprosencephaly Prominent antihelix Alobar holoprosencephaly Thoracic hemivertebrae Hypoplasia of the premaxilla Underdeveloped tragus Single naris Short hard palate Anterior pituitary agenesis Agenesis of incisor Asymmetric ventricles Cognitive impairment Highly arched eyebrow Poor speech Short foot Small hand Downturned corners of mouth Hirsutism Thick eyebrow Bulbous nose Postnatal growth retardation Hypospadias Feeding difficulties in infancy Brachycephaly Intrauterine growth retardation Abnormality of cardiovascular system morphology Behavioral abnormality Short neck Pain High iliac wings Punctate cataract Pulmonary artery atresia Aganglionic megacolon Plagiocephaly Tented upper lip vermilion Elevated alkaline phosphatase Broad hallux Anonychia Long palpebral fissure Anal stenosis Peripheral pulmonary artery stenosis Anterior plagiocephaly Shortening of all distal phalanges of the fingers Perineal fistula Abdominal situs inversus Sensorineural hearing impairment Duodenal atresia Generalized-onset seizure Gait disturbance Asplenia Polysplenia Myelomeningocele Visual loss Double outlet right ventricle Abnormal lung lobation Glaucoma Ciliary dyskinesia Dextrocardia Neonatal hypotonia Myalgia Hip dislocation Situs inversus totalis Small nail Vesicoureteral reflux Joint hypermobility Distichiasis Ascites Nail dysplasia Tetralogy of Fallot Lymphedema Hydrops fetalis Abnormality of the nail Conjunctivitis Pleural effusion Cellulitis Edema of the lower limbs Hydrocele testis Varicose veins Nonimmune hydrops fetalis Hypoproteinemia Abnormality of the amniotic fluid Broad nasal tip Pulmonary artery hypoplasia Heterotaxy Upslanted palpebral fissure Biliary atresia Ventriculomegaly Common atrium Single ventricle Mitral atresia Chylous ascites Dextrotransposition of the great arteries Posteriorly placed anus Strabismus Hyperkeratosis over edematous areas Hypoplasia of lymphatic vessels Predominantly lower limb lymphedema Cardiomegaly Intestinal malrotation Posterior wedging of vertebral bodies Esotropia Ovotestis Wide mouth Sparse hair Abnormality of the penis Narrow chest Carious teeth Abnormality of the adrenal glands Abnormality of skin pigmentation Sex reversal Wide nose Delayed eruption of teeth Pulmonary artery stenosis Bifid uvula Prominent nose Microdontia Skeletal dysplasia Decreased skull ossification Posterior Y-sutural cataract Sutural cataract Paresthesia Narrow iliac wings Hypoplasia of teeth Delayed closure of the anterior fontanelle Capillary hemangioma Large fontanelles Premature loss of teeth Brittle hair Prominent supraorbital ridges Coarse hair Wide anterior fontanel Hyperpigmentation of the skin Hypoplasia of the bladder Bilateral lung agenesis Retinal detachment Megalocornea Recurrent fractures Microcornea Hip dysplasia Dyskinesia High myopia Blue sclerae Abnormality of epiphysis morphology Congenital hip dislocation Cutis laxa Corneal dystrophy Hyperextensible skin Increased susceptibility to fractures Hallux valgus Keratoconus Sclerocornea Malrotation of small bowel Cataract Prominent forehead Adrenal gland agenesis Frontal bossing Optic atrophy Cerebellar hypoplasia Recurrent respiratory infections Respiratory tract infection Corneal erosion Abnormality of hair pigmentation Decreased corneal thickness Keratoglobus Flat cornea Shoulder dislocation Corneal scarring Paroxysmal supraventricular tachycardia



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