Cleft palate, and Spina bifida

Diseases related with Cleft palate and Spina bifida

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


Top matches:

Low match ENLARGED PARIETAL FORAMINA


Enlarged parietal foramina (EPF) is a developmental defect, characterized by variable intramembranous ossification defects of the parietal bones, which is either asymptomatic, symptomatic (headaches, nausea, vomiting, intellectual disability) or associated with other pathologies.

ENLARGED PARIETAL FORAMINA Is also known as fpp|cranium bifidum occultum|fenestrae parietales symmetricae|hereditary cranium bifidum|catlin marks|pfm|parietal foramina, symmetric|cranium bifidum, hereditary|symmetric parietal foramina|foramina parietalia permagna

Related symptoms:

  • Seizures
  • Cleft palate
  • Macrocephaly
  • Headache
  • Confusion


SOURCES: OMIM ORPHANET MENDELIAN

More info about ENLARGED PARIETAL FORAMINA

Low match MECKEL SYNDROME, TYPE 2; MKS2


Meckel syndrome is a rare autosomal recessive lethal condition characterized by an occipital meningoencephalocele, enlarged kidneys with multicystic dysplasia and fibrotic changes in the portal area of the liver and with ductal proliferation, and postaxial polydactyly. For a more complete phenotypic description and information on genetic heterogeneity, see MKS1 (OMIM ).

MECKEL SYNDROME, TYPE 2; MKS2 Is also known as meckel-gruber syndrome, type 2

Related symptoms:

  • Growth delay
  • Cleft palate
  • Intrauterine growth retardation
  • Microphthalmia
  • Polydactyly


SOURCES: OMIM MESH MENDELIAN

More info about MECKEL SYNDROME, TYPE 2; MKS2

Low match ISOLATED ANENCEPHALY/EXENCEPHALY


Anencephaly is a neural tube defect. This malformation is characterized by the total or partial absence of the cranial vault and the covering skin, the brain being missing or reduced to a small mass. Most cases are stillborn, although some infants have been reported to survive for a few hours or even a few days.

Related symptoms:

  • Hypertelorism
  • Cleft palate
  • Talipes equinovarus
  • Hydrocephalus
  • Abnormality of cardiovascular system morphology


SOURCES: ORPHANET OMIM MENDELIAN

More info about ISOLATED ANENCEPHALY/EXENCEPHALY

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Other less relevant matches:

Low match MECKEL SYNDROME, TYPE 4; MKS4


Meckel syndrome is an autosomal recessive pre- or perinatal lethal disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically occipital encephalocele), hepatic ductal dysplasia and cysts, and postaxial polydactyly (summary by Baala et al., 2007).For a more complete phenotypic description and information on genetic heterogeneity of Meckel syndrome, see MKS1 (OMIM ).

MECKEL SYNDROME, TYPE 4; MKS4 Is also known as meckel-gruber syndrome, type 4

Related symptoms:

  • Microcephaly
  • Cleft palate
  • Intrauterine growth retardation
  • Ventricular septal defect
  • Hypoplasia of the corpus callosum


SOURCES: OMIM MENDELIAN

More info about MECKEL SYNDROME, TYPE 4; MKS4

Low match POPLITEAL PTERYGIUM SYNDROME; PPS


POPLITEAL PTERYGIUM SYNDROME; PPS Is also known as cleft lip/palate, paramedian mucous cysts of the lower lip, popliteal pterygium, digital and genital anomalies|faciogenitopopliteal syndrome

Related symptoms:

  • Cleft palate
  • Cryptorchidism
  • Flexion contracture
  • Abnormality of the skeletal system
  • Talipes equinovarus


SOURCES: OMIM MENDELIAN

More info about POPLITEAL PTERYGIUM SYNDROME; PPS

Low match AUTOSOMAL DOMINANT SPONDYLOCOSTAL DYSOSTOSIS


Autosomal dominant spondylocostal dysostosis is a very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs.

AUTOSOMAL DOMINANT SPONDYLOCOSTAL DYSOSTOSIS Is also known as autosomal dominant spondylocostal dysplasia

Related symptoms:

  • Microcephaly
  • Scoliosis
  • Cleft palate
  • Wide nasal bridge
  • Intrauterine growth retardation


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT SPONDYLOCOSTAL DYSOSTOSIS

Low match WAARDENBURG SYNDROME TYPE 1


Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS; see this term), disorder characterized by congenital deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum.

WAARDENBURG SYNDROME TYPE 1 Is also known as waardenburg syndrome type i|ws1

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Strabismus
  • Cleft palate
  • Ptosis


SOURCES: ORPHANET MENDELIAN

More info about WAARDENBURG SYNDROME TYPE 1

Low 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

Low 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

Low match ISOLATED KLIPPEL-FEIL SYNDROME


Klippel-Feil Syndrome is characterised by improper segmentation of cervical segments resulting in congenitally fused cervical vertebrae.

ISOLATED KLIPPEL-FEIL SYNDROME Is also known as congenital cervical vertebral fusion|klippel-feil sequence|congenital fused cervical segments|klippel-feil malformation|cervical vertebral fusion, autosomal recessive|kfs, autosomal recessive

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about ISOLATED KLIPPEL-FEIL SYNDROME

Top 5 symptoms//phenotypes associated to Cleft palate and Spina bifida

Symptoms // Phenotype % cases
Cleft upper lip Uncommon - Between 30% and 50% cases
Abnormality of cardiovascular system morphology Uncommon - Between 30% and 50% cases
Ventricular septal defect Uncommon - Between 30% and 50% cases
Polydactyly Uncommon - Between 30% and 50% cases
Anencephaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cleft palate and Spina bifida. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Intrauterine growth retardation Hypertelorism Microcephaly Atrial septal defect Postaxial hand polydactyly Spina bifida occulta Encephalocele Scoliosis Meningocele Hearing impairment Postaxial polydactyly

Rare Symptoms - Less than 30% cases


Sensorineural hearing impairment Anal atresia Abnormal lung lobation Recurrent respiratory infections Holoprosencephaly Abnormality of the ribs Bifid uvula Abnormal sacrum morphology Hydrocephalus Bile duct proliferation Talipes equinovarus Microphthalmia Macrocephaly Calvarial skull defect Wide nasal bridge Sprengel anomaly Meningoencephalocele Short neck Cleft lip Renal cyst Dandy-Walker malformation Bowing of the long bones Occipital encephalocele Single ventricle Pulmonary artery hypoplasia Biliary atresia Dextrotransposition of the great arteries Mitral atresia Heterotaxy Abdominal situs inversus Pulmonary artery atresia Posteriorly placed anus Common atrium Seizures Duodenal atresia Renal agenesis Arrhythmia Abnormal heart morphology Cerebellar hypoplasia Respiratory tract infection Pulmonic stenosis Dyskinesia Intestinal malrotation Intellectual disability Asplenia Cardiomegaly Situs inversus totalis Dextrocardia Ciliary dyskinesia Transposition of the great arteries Double outlet right ventricle Myelomeningocele Polysplenia Oligohydramnios Laryngeal web Global developmental delay Abnormal cranial nerve morphology Webbed neck Wide intermamillary distance Low posterior hairline Renal hypoplasia/aplasia Hemiplegia/hemiparesis Vertebral fusion Abnormality of the vertebral column Ectopic anus Facial asymmetry Fused cervical vertebrae Short sternum Abnormality of the shoulder Congenital muscular torticollis Aplasia of the ulna Cervical C2/C3 vertebral fusion Abnormal vertebral segmentation and fusion Decreased cervical spine mobility Flat face Abnormality of the pinna Short stature Butterfly vertebrae Talipes Renal hypoplasia Aortic valve stenosis Hypoplastic left heart Tracheomalacia Lipoma Mitral stenosis Tethered cord Spinal dysraphism Abnormality of the kidney Absence of the sacrum Laryngotracheomalacia Hypoplastic sacrum Failure to thrive Low-set ears Cognitive impairment High palate Conductive hearing impairment Patent ductus arteriosus Mandibular prognathia White eyebrow Scrotal hypoplasia Abnormality of the skeletal system Syndactyly Dementia Toe syndactyly Overgrowth Abnormality of the genital system Pterygium Cryptorchidism Bifid scrotum Hypoplasia of the uterus Cutaneous finger syndactyly Bilateral cleft lip Bilateral cleft lip and palate Hypoplastic labia majora Labial hypoplasia Flexion contracture Agenesis of cerebellar vermis Popliteal pterygium Congenital diaphragmatic hernia Headache Confusion Aplasia cutis congenita of scalp Parietal foramina Symmetrical, oval parietal bone defects Growth delay Hernia Omphalocele Molar tooth sign on MRI Aplasia/Hypoplasia of the cerebellum Abnormality of neuronal migration Primary adrenal insufficiency Abnormality of the diaphragm Neural tube defect Hypoplasia of the corpus callosum Renal dysplasia Ankyloblepharon Hypoplasia of the vagina White eyelashes Tented upper lip vermilion Synophrys Thick eyebrow Underdeveloped nasal alae Aganglionic megacolon Abnormality of the hair Hypopigmented skin patches Abnormality of vision Telecanthus Congenital sensorineural hearing impairment Premature graying of hair Hypopigmentation of hair Heterochromia iridis White hair White forelock Lacrimation abnormality Abnormality of the eye Short nose Abnormality of the scrotum Upslanted palpebral fissure Lower lip pit Fibrous syngnathia Absent scrotum Intercrural pterygium Pyramidal skinfold extending from the base to the top of the nails Anteverted nares Severe short stature Hyperlordosis Ptosis Short thorax Prominent occiput Vertebral segmentation defect Missing ribs Abnormality of female internal genitalia Posterior rib fusion Strabismus Limited neck range of motion



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