Cleft palate, and Aortic valve stenosis

Diseases related with Cleft palate and Aortic valve stenosis

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


Top matches:

Medium match VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1; VCRL1


VCRL1 is an autosomal recessive congenital malformation syndrome characterized by vertebral segmentation abnormalities, congenital cardiac defects, renal defects, and distal mild limb defects. Additional features are variable (summary by Shi et al., 2017). Genetic Heterogeneity of vertebral, cardiac, renal, and limb defects syndromeSee also VCRL2 (OMIM ), caused by mutation in the KYNU gene (OMIM ) on chromosome 2q22.

VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1; VCRL1 Is also known as 3-hydroxyanthranilic acidemia|congenital nad deficiency disorder 1

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1; VCRL1

Medium match 3Q29 MICRODELETION SYNDROME


3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features.

3Q29 MICRODELETION SYNDROME Is also known as del(3)(q29)|microdeletion 3q29 syndrome|3q subtelomere deletion syndrome|monosomy 3q29|monosomy 3qter|3qter deletion

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Ataxia
  • Failure to thrive


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about 3Q29 MICRODELETION SYNDROME

Medium match LEOPARD SYNDROME 1; LPRD1


LEOPARD is an acronym for the manifestations of this syndrome as listed by Gorlin et al. (1969): multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness. Genetic Heterogeneity of LEOPARD SyndromeLEOPARD syndrome is a genetically heterogeneous disorder. See also LEOPARD syndrome-2 (OMIM ), caused by mutation in the RAF1 gene (OMIM ), and LEOPARD syndrome-3 (OMIM ), caused by mutation in the BRAF gene (OMIM ).

LEOPARD SYNDROME 1; LPRD1 Is also known as multiple lentigines syndrome|lentiginosis, cardiomyopathic

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LEOPARD SYNDROME 1; LPRD1

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Other less relevant matches:

Medium match EHLERS-DANLOS SYNDROME, PROGEROID TYPE


Ehlers-Danlos syndrome, progeroid type (EDS-PF) is a form of Ehlers-Danlos syndrome characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars.

EHLERS-DANLOS SYNDROME, PROGEROID TYPE Is also known as pds, defective biosynthesis of|ehlers-danlos syndrome with short stature and limb anomalies|edsp1, formerly|eds, progeroid type|xgpt deficiency|dermatan sulfate proteoglycan|proteodermatan sulfate, defective biosynthesis of|edssla|xylosylprotein 4-beta-ga

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, PROGEROID TYPE

Medium match MEND SYNDROME


MEND syndrome is a rare, genetic, syndromic, sterol biosynthesis disorder affecting males characterized by skin manifestations, including collodion membrane, ichthyosis, and patchy hypopigmentary lesions, associated with severe neurological involvement (e.g. intellectual disability, delayed psychomotor development, seizures, hydrocephalus, cerebellar/corpus callosum hypoplasia, Dandy-Walker malformation, hypotonia) and craniofacial dysmorphism (large anterior fontanelle, telecanthus, hypertelorism, microphthalmia, prominent nasal bridge, low-set ears, micrognathia, cleft palate). 2,3 toe syndactyly, polydactyly, and kyphosis, as well as ophthalmic, cardiac and urogenital anomalies may also be associated.

MEND SYNDROME Is also known as male ebp disorder with neurologic defects|male ebp disorder with neurological defects

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MEND SYNDROME

Medium match HOLT-ORAM SYNDROME; HOS


Holt-Oram syndrome is an autosomal dominant disorder characterized by abnormalities of the upper limbs and shoulder girdle, associated with a congenital heart lesion. The typical combination is considered to be a triphalangeal thumb with a secundum atrial septal defect (ASD), but there is a great range in the severity of both the heart and skeletal lesions (summary by Hurst et al., 1991).

HOLT-ORAM SYNDROME; HOS Is also known as atriodigital dysplasia|heart-hand syndrome|hos1

Related symptoms:

  • Intellectual disability
  • Short stature
  • Failure to thrive
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about HOLT-ORAM SYNDROME; HOS

Medium match OPITZ GBBB SYNDROME, TYPE II; GBBB2


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

Medium match ADAMS-OLIVER SYNDROME


Adams-Oliver Syndrome (AOS) is a rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects.

ADAMS-OLIVER SYNDROME Is also known as aplasia cutis congenita with terminal transverse limb defects|congenital scalp defects with distal limb reduction anomalies|congenital scalp defects with distal limb anomalies|aos|absence defect of limbs, scalp, and skull|limb, scalp and skull defects

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME

Medium match ACROOSTEOLYSIS DOMINANT TYPE


Acroosteolysis dominant type (AOD) is a rare genetic osteolysis syndrome characterized by acroosteolysis of distal phalanges and generalized osteoporosis, associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics.

ACROOSTEOLYSIS DOMINANT TYPE Is also known as acrodentoosteodysplasia|acroosteolysis with osteoporosis and changes in skull and mandible|cheney syndrome|hajdu-cheney syndrome|arthrodentoosteodysplasia

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about ACROOSTEOLYSIS DOMINANT TYPE

Medium match ROBERTS SYNDROME


Roberts syndrome (RBS) is characterized by pre- and postnatal growth retardation, severe symmetric limb reduction defects, craniofacial anomalies and severe intellectual deficit. SC phocomelia is a milder form of RBS.

ROBERTS SYNDROME Is also known as pseudothalidomide syndrome|roberts-sc phocomelia syndrome|sc pseudothalidomide syndrome|sc phocomelia

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ROBERTS SYNDROME

Top 5 symptoms//phenotypes associated to Cleft palate and Aortic valve stenosis

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Abnormality of cardiovascular system morphology Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Micrognathia

Uncommon Symptoms - Between 30% and 50% cases


Posteriorly rotated ears Ventricular septal defect Cataract Prominent nasal bridge Hearing impairment Hypertelorism Patent ductus arteriosus Cryptorchidism Low-set ears Abnormal cardiac septum morphology Pectus excavatum Hypospadias Hernia High palate Growth delay Scoliosis Downslanted palpebral fissures Seizures Epicanthus Hypertension Short neck Pectus carinatum Abnormal heart morphology Brachydactyly Abnormal facial shape Abnormality of the skeletal system Microcephaly Intellectual disability, mild Pulmonic stenosis Generalized hypotonia Atrial septal defect Osteopenia Wide nasal bridge Single transverse palmar crease Subvalvular aortic stenosis Skeletal dysplasia Joint hyperflexibility Ventriculomegaly Strabismus Hydrocephalus Telecanthus Syndactyly Pulmonary arterial hypertension Microphthalmia Inguinal hernia Macrocephaly Hypoplastic left heart Alopecia Dilatation Bifid uvula Muscular hypotonia Coarctation of aorta Congestive heart failure Thrombocytopenia Frontal bossing Abnormality of the dentition Bowing of the long bones Depressed nasal bridge Clinodactyly Cleft upper lip

Rare Symptoms - Less than 30% cases


Proptosis Myocardial infarction Chest pain Bruising susceptibility Bilateral cryptorchidism Anteverted nares Narrow mouth Bundle branch block Heart block Wormian bones Talipes equinovarus Flexion contracture Prominent forehead Midface retrusion Blue sclerae Agenesis of corpus callosum Radioulnar synostosis Oligodactyly Intrauterine growth retardation Gastrointestinal hemorrhage Short thumb Hypoplasia of the radius Prominent occiput Absent thumb Absent radius Esotropia Intestinal malrotation Phocomelia Iris coloboma Aplasia of the ulna Craniosynostosis Abnormality of the kidney Umbilical hernia Dandy-Walker malformation Sparse hair Abnormality of the upper limb Hypertonia Bowing of the legs Short clavicles Periodontitis Absent earlobe Hemiparesis Premature birth Hypoplasia of the corpus callosum Delayed puberty Wide nose Polydactyly Cerebral cortical atrophy Polyhydramnios Short distal phalanx of finger Toe syndactyly Smooth philtrum Finger syndactyly Triangular face Osteoporosis Horseshoe kidney Kyphoscoliosis Pain Kyphosis Neoplasm Depressivity Clinodactyly of the 5th finger Hyperactivity Cognitive impairment Gastroesophageal reflux Thin upper lip vermilion Sandal gap Micropenis Fatigue Long face Aggressive behavior Aspiration Joint laxity Mitral stenosis Conductive hearing impairment Abnormality of skin pigmentation Oral cleft Sensorineural hearing impairment Talipes Tracheomalacia Cleft lip Delayed speech and language development Ankyloglossia Short lingual frenulum Hypoplasia of the epiglottis Unilateral cleft lip Low hanging columella Hoarse cry Dilated fourth ventricle Cavum septum pellucidum Aplasia/Hypoplasia of the cerebellar vermis Inspiratory stridor Cranial asymmetry Absent gallbladder Metopic synostosis Laryngeal cleft Rough bone trabeculation Vascular ring Cirrhosis Proximal placement of thumb Radial deviation of finger Short femoral neck Aplasia/Hypoplasia of the thumb Hip contracture Underdeveloped supraorbital ridges Synostosis of carpal bones Polymicrogyria External ear malformation Rectal atresia Leukemia Severe intrauterine growth retardation Upper limb undergrowth EEG abnormality Sagittal craniosynostosis Capillary hemangioma Absent pulmonary artery Rectourethral fistula Posterior pharyngeal cleft Cerebellar hypoplasia Bilateral cleft lip and palate Bicornuate uterus Mesomelic arm shortening Facial hemangioma Laryngomalacia Anosmia Cardiac arrest Hoarse voice Recurrent urinary tract infections Cerebellar vermis hypoplasia Progressive flexion contractures Vesicoureteral reflux High, narrow palate Recurrent upper respiratory tract infections Pulmonary hypoplasia Tetraphocomelia Anal atresia Cough Coloboma Midface capillary hemangioma Hydronephrosis Rod-cone dystrophy Constipation Complete duplication of thumb phalanx Abnormality of the urinary system Concave nasal ridge Prominent metopic ridge Fair hair Widow's peak Enlarged cisterna magna Abnormality of the respiratory system Diastasis recti Megalencephaly Bilateral cleft lip Patellar aplasia Hiatus hernia Anal stenosis Wrist flexion contracture Abnormality of the ureter Limb dystonia Long penis Weak cry Humeroradial synostosis Rocker bottom foot Tracheoesophageal fistula Bifid scrotum Oral-pharyngeal dysphagia Stridor Ascites Encephalocele Nail dysplasia Retrognathia Downturned corners of mouth Thick eyebrow Thin vermilion border Dry skin Synophrys Malar flattening Brachycephaly Dolichocephaly Glaucoma Coarse facial features Arthralgia Full cheeks Postnatal growth retardation Paralysis Corneal opacity Hypotrichosis Falls Recurrent respiratory infections Headache Long philtrum Splenomegaly Myopia Recurrent fractures Thickened skin Peripheral neuropathy Open bite Abnormality of the mandible Platybasia Biconcave vertebral bodies Hypoplastic 5th lumbar vertebrae Decreased skull ossification Hypoplasia of the zygomatic bone Abnormality of the skull Patellar dislocation Multiple renal cysts Syringomyelia Abnormality of the voice Bone pain Coarse hair Arnold-Chiari malformation Partial absence of toe Osteolysis Abnormality of the fingernails Nystagmus Generalized hirsutism Low anterior hairline Skin ulcer Short toe Hepatomegaly Aplasia cutis congenita on trunk or limbs Tetralogy of Fallot Portal hypertension Double outlet right ventricle Pulmonary artery stenosis Melanoma Central hypotonia Aplasia cutis congenita Cutaneous finger syndactyly Aplasia/Hypoplasia of the skin Cortical dysplasia Supernumerary nipple Cutis marmorata Abnormality of the metacarpal bones Hemangioma Bicuspid aortic valve Leukopenia Polycystic kidney dysplasia Meningitis Telangiectasia Pachygyria Absent frontal sinuses Split hand Clitoral hypertrophy Small nail Calvarial skull defect Arteriovenous malformation Aplasia cutis congenita over posterior parietal area Aplastic/hypoplastic toenail Acrania Imperforate hymen Periventricular cysts Underdeveloped nasal alae Cutis marmorata telangiectatica congenita Absent toe Abnormal pulmonary valve morphology Venous malformation Absent fingernail Absent hand Chylothorax Abnormality of the lower limb Aplasia cutis congenita of scalp Periventricular leukomalacia Porencephalic cyst Congenital hepatic fibrosis Bilateral single transverse palmar creases Esophageal varix Knee flexion contracture Pulmonary artery atresia Opacification of the corneal stroma Hypoplastic fingernail Dystonia Broad hallux Dysphagia Abnormal mitral valve morphology Coronary artery aneurysm Numerous nevi Hypoplasia of the ovary Third degree atrioventricular block Delayed menarche Parietal bossing Multiple lentigines Limited elbow movement Abnormal aortic valve morphology Hyposmia Motor delay Angina pectoris Missing ribs Multiple cafe-au-lait spots Severe hearing impairment Unilateral renal agenesis Cubitus valgus Pterygium Mutism Spina bifida occulta Scapular winging Aplasia of the ovary Skeletal muscle atrophy Abnormality of the genital system Congenital diaphragmatic hernia Sparse eyelashes Accelerated skeletal maturation Joint dislocation Coxa valga Elbow flexion contracture Sparse and thin eyebrow Thin skin Sparse scalp hair Fine hair Cutaneous photosensitivity Nevus Severe short stature Flat face Joint hypermobility Arachnodactyly Narrow chest Hypermetropia Broad forehead Microtia Scarring Abnormality of the nervous system Pes planus Cafe-au-lait spot Mitral regurgitation Hyperextensible skin Behavioral abnormality Small for gestational age Short philtrum Attention deficit hyperactivity disorder Respiratory tract infection Intellectual disability, moderate Anxiety Macrotia Autism Gait ataxia Short nose Gait disturbance Everted lower lip vermilion Ataxia Laryngeal web Hypoplastic sacrum Laryngotracheomalacia Absence of the sacrum Spinal dysraphism Butterfly vertebrae Tethered cord Lipoma Renal hypoplasia Facial asymmetry Tapered finger Depressed nasal ridge Respiratory insufficiency Overgrowth Webbed neck Syncope Protruding ear Hypertrophic cardiomyopathy Neonatal hypotonia Mandibular prognathia Hyperkeratosis Arrhythmia Cardiomyopathy Ptosis Prominent nose Six lumbar vertebrae Broad face Shallow orbits Bipolar affective disorder Nasal speech Narrow face Anorexia Stereotypy Dental crowding Psychosis Cutis laxa Lipodystrophy Feeding difficulties Mitral valve prolapse Hypoplasia of the ulna Triphalangeal thumb Atrioventricular block Eosinophilia Aortic regurgitation Finger clinodactyly Bradycardia Abnormal vertebral morphology Atrial fibrillation Epistaxis Abnormality of the cardiovascular system Right bundle branch block Asthma Nausea Hepatosplenomegaly Diarrhea Vomiting Respiratory distress Anemia Olivopontocerebellar hypoplasia Hypoplastic aortic arch Spotty hypopigmentation Menorrhagia Petechiae Otosclerosis Hematemesis Quadricuspid aortic valve Patellar subluxation Lactose intolerance Tibial torsion Aplasia of the pectoralis major muscle Mesoaxial polydactyly Short digit Partial duplication of thumb phalanx Abnormality of the carpal bones Small thenar eminence Total anomalous pulmonary venous return Limited elbow extension Anomalous pulmonary venous return Complete atrioventricular canal defect Ecchymosis Allergy Secundum atrial septal defect Down-sloping shoulders Truncus arteriosus Thoracic scoliosis Short humerus Atrioventricular canal defect Long neck Overlapping fingers Sparse eyebrow Small face Large joint dislocations Prominent scalp veins Advanced ossification of carpal bones Flat forehead Talipes equinovalgus Forearm undergrowth Ulnar bowing Dermal translucency Long toe Poor wound healing Generalized osteoporosis Slender toe Varicose veins Progeroid facial appearance Mild global developmental delay Atypical scarring of skin Gingivitis Genu recurvatum Proportionate short stature Curly hair Atrophic scars Elbow dislocation Soft, doughy skin Testicular torsion Narrow nose Narrow forehead Epiphyseal stippling Long fingers Ectopic kidney Overlapping toe 2-3 toe syndactyly Self-injurious behavior Overfolded helix Sacral dimple Microretrognathia Narrow palpebral fissure Wide intermamillary distance Phalangeal dislocation Hypopigmentation of the skin Thick vermilion border Bulbous nose Ichthyosis Low-set, posteriorly rotated ears Muscular hypotonia of the trunk Deeply set eye Palmoplantar cutis gyrata Abnormality of primary teeth Facial wrinkling Premature separation of centromeric heterochromatin



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