Cleft palate, and Tetralogy of Fallot

Diseases related with Cleft palate and Tetralogy of Fallot

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


Top matches:

Low match CONOTRUNCAL HEART MALFORMATIONS; CTHM


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Cleft palate
  • Depressed nasal bridge


SOURCES: OMIM MENDELIAN

More info about CONOTRUNCAL HEART MALFORMATIONS; CTHM

Low match MCKUSICK-KAUFMAN SYNDROME


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

Low 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:

Low match SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY; SRTD20


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}).

Related symptoms:

  • Hypertelorism
  • Micrognathia
  • Cleft palate
  • Low-set ears
  • Frontal bossing


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY; SRTD20

Low match THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME


Thrombocytopenia-absent radius (TAR) syndrome is a very rare congenital malformation syndrome characterized by bilateral radial aplasia and thrombocytopenia.

THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME Is also known as tar syndrome

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Sensorineural hearing impairment
  • Cleft palate
  • Thrombocytopenia


SOURCES: ORPHANET MENDELIAN

More info about THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME

Low match DIAMOND-BLACKFAN ANEMIA 7; DBA7


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).For a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 (OMIM ).

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Neoplasm
  • Cleft palate


SOURCES: OMIM MESH MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 7; DBA7

Low match BLACKFAN-DIAMOND ANEMIA


Blackfan-Diamond anemia (DBA) is a congenital aregenerative and often macrocytic anemia with erythroblastopenia.

BLACKFAN-DIAMOND ANEMIA Is also known as congenital hypoplastic anemia, blackfan-diamond type|congenital pure red cell aplasia|aase-smith syndrome ii|congenital prca|aase-smith ii syndrome|aase syndrome

Related symptoms:

  • Short stature
  • Growth delay
  • Hypertelorism
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about BLACKFAN-DIAMOND ANEMIA

Low match FRONTONASAL DYSPLASIA-SEVERE MICROPHTHALMIA-SEVERE FACIAL CLEFTING SYNDROME


Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome is a rare, genetic, orofacial clefting malformation syndrome characterized by severe frontonasal dysplasia with complete cleft palate, facial cleft, extreme microphtalmia and hypertelorism, frequently associated with eyelid colobomata, sparse or absent eyelashes/eyebrows, wide nasal bridge with hypoplastic alae nasi, low-set, posteriorly rotated ears and caudal appendage in the sacral region.

FRONTONASAL DYSPLASIA-SEVERE MICROPHTHALMIA-SEVERE FACIAL CLEFTING SYNDROME Is also known as alx1-related frontonasal dysplasia|frontonasal dysplasia type 3

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Cleft palate
  • Cataract
  • Ptosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about FRONTONASAL DYSPLASIA-SEVERE MICROPHTHALMIA-SEVERE FACIAL CLEFTING SYNDROME

Low match INTELLECTUAL DISABILITY-FEEDING DIFFICULTIES-DEVELOPMENTAL DELAY-MICROCEPHALY SYNDROME


Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by borderline to severe intellectual disability, global development delay, feeding difficulties, microcephaly, short stature and mild facial dysmorphism, including thick eyebrows, long eyelashes, prominent incisors and/or thin upper lip. Other associated features may include hypermetropia with or without esotropia, behavioral anomallies (e.g. autistic behavior, sleeping disturbances), urogenital abnormalities (e.g. crytorchidism, inguinal hernia), single palmar crease, fifth-finger clinodactyly and cardiac defects (e.g. ASD, PDA).

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-FEEDING DIFFICULTIES-DEVELOPMENTAL DELAY-MICROCEPHALY SYNDROME

Low match SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR SYNDROME


Solitary median maxillary central incisor syndrome (SMMCI) is a complex disorder consisting of multiple, mainly midline, defects of development resulting from unknown factor(s) operating in utero from about the 35th-38th day after conception.

SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR SYNDROME Is also known as single central maxillary incisor|smmci|fused incisors|single upper central incisor|incisors, fused

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR SYNDROME

Top 5 symptoms//phenotypes associated to Cleft palate and Tetralogy of Fallot

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Ventricular septal defect Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Cleft lip Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cleft palate and Tetralogy of Fallot. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Patent ductus arteriosus Short stature Strabismus Micrognathia Atrial septal defect Microphthalmia Global developmental delay Intrauterine growth retardation Intellectual disability, mild Growth delay

Rare Symptoms - Less than 30% cases


Bifid uvula Anemia Anal atresia Postaxial polydactyly Fetal distress Neoplasm Agenesis of corpus callosum Horseshoe kidney Autistic behavior Short nose Low-set, posteriorly rotated ears Ptosis Osteoporosis Arrhythmia Cleft upper lip Pulmonary hypoplasia Depressed nasal ridge Finger syndactyly Reticulocytopenia Severe short stature Maternal diabetes Coarctation of aorta Neutropenia Abnormal cardiac septum morphology Choanal atresia Short thumb Triphalangeal thumb Macrocytic anemia Brachydactyly Microcephaly Hemangioma Complete atrioventricular canal defect Esophagitis Increased mean corpuscular volume Brachycephaly Failure to thrive Cryptorchidism Hypoplasia of the corpus callosum Abnormality of the urinary system Abnormality of the hand Posteriorly rotated ears Tracheomalacia Acute leukemia Underdeveloped nasal alae Cleft soft palate Persistence of hemoglobin F Conductive hearing impairment Hypoplasia of the maxilla Epicanthus Camptodactyly of finger Wide nasal bridge Cataract Uterine neoplasm Melanoma Small hypothenar eminence Osteopenia Vesicoureteral reflux Recurrent otitis media Atresia of the external auditory canal Sprengel anomaly Recurrent lower respiratory tract infections Secundum atrial septal defect Vitamin D deficiency Fatigue Abnormality of the genital system Autism Retrognathia Pallor Delayed puberty Migraine Mitral valve prolapse Ventricular hypertrophy Thick lower lip vermilion Mitral regurgitation Preauricular skin tag Prominent glabella Recurrent pneumonia Median cleft lip Specific learning disability Hypotelorism Ambiguous genitalia Hypoplasia of penis Holoprosencephaly EMG: myopathic abnormalities Anosmia Tented upper lip vermilion Precocious puberty Anophthalmia Narrow nasal bridge Hamartoma Duodenal atresia Growth hormone deficiency Abnormality of chromosome segregation Hyposmia Panhypopituitarism Nasal obstruction Single median maxillary incisor Abnormality of the nasopharynx Cyclopia Semilobar holoprosencephaly Hypothalamic hamartoma Torus palatinus Single naris Prominent median palatal raphe Pyriform aperture stenosis Renal agenesis Premature birth Finger clinodactyly Hypoplasia of the frontal bone Sparse eyelashes Sparse eyebrow Absent eyebrow Facial cleft Eyelid coloboma Widow's peak Bifid nose Wide nasal base Upper eyelid coloboma Caudal appendage Cranium bifidum occultum Lipoma of corpus callosum Pectoral muscle hypoplasia/aplasia Ectodermal dysplasia Aplasia/Hypoplasia of the frontal sinuses Generalized hypotonia Feeding difficulties Abnormality of the dentition Hypermetropia Thin vermilion border Seizures Anteverted nares Hypothyroidism Coloboma Short philtrum Iris coloboma Asthma Polyhydramnios Absent radius Recurrent infections Abnormality of the nail Urethral stricture Hydrometrocolpos Glandular hypospadias Edema Photophobia Pulmonic stenosis Paresthesia Ascites Nail dysplasia Lymphedema Hydrops fetalis Conjunctivitis Ectopic anus Pleural effusion Cellulitis Edema of the lower limbs Hydrocele testis Varicose veins Nonimmune hydrops fetalis Hypoproteinemia Distichiasis Abnormality of the amniotic fluid Chylous ascites Predominantly lower limb lymphedema Hypoplasia of lymphatic vessels Urogenital sinus anomaly Postaxial foot polydactyly Low-set ears Hypoparathyroidism Depressed nasal bridge Abnormality of cardiovascular system morphology Abnormality of metabolism/homeostasis Abnormal heart morphology Narrow mouth Short palpebral fissure Hypocalcemia Nasal speech Broad hallux Transposition of the great arteries Submucous cleft hard palate Double outlet right ventricle Tarsal synostosis Truncus arteriosus Pulmonary artery atresia Aortopulmonary window Anomalous origin of one pulmonary artery from ascending aorta High palate Hydronephrosis Postaxial hand polydactyly Aganglionic megacolon Multicystic kidney dysplasia Renal hypoplasia/aplasia Abnormality of the metacarpal bones Hypoplastic left heart Hyperkeratosis over edematous areas Frontal bossing Hearing impairment Genu varum Sensorineural hearing impairment Thrombocytopenia Clinodactyly of the 5th finger High forehead Abnormality of the kidney Broad forehead Hip dislocation Broad thumb Coxa valga Abnormality of the genitourinary system Adducted thumb Abnormality of coagulation Narrow sacroiliac notch Patellar dislocation Fused cervical vertebrae Aplasia of the uterus Fibular aplasia Phocomelia Aplasia/Hypoplasia of the patella Cervical ribs Aplasia/Hypoplasia of the ulna Aplasia/hypoplasia of the humerus Nevus flammeus of the forehead Tibial torsion Axial malrotation of the kidney Esophageal diverticulum Absent nasal bridge Abnormality of the skeletal system Natal tooth Short neck Respiratory insufficiency Polydactyly Micropenis Abnormality of the pinna Microtia Narrow chest Oral cleft Low posterior hairline Wide anterior fontanel Short ribs Preaxial polydactyly Fibular hypoplasia Large posterior fontanelle Short tibia Thoracic dysplasia Lateral clavicle hook Horizontal ribs Uterus didelphys Hypoplastic pubic bone Long thorax Hamartoma of tongue Multiple skeletal anomalies Laryngeal hypoplasia Septate vagina Decreased calvarial ossification Midnasal stenosis



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