Cleft palate, and Intestinal malrotation

Diseases related with Cleft palate and Intestinal malrotation

In the following list you will find some of the most common rare diseases related to Cleft palate and Intestinal malrotation 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 SECOND BRANCHIAL CLEFT ANOMALY


Agnathia-otocephaly is a rare condition characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary, and cardiovascular anomalies, and situs inversus have been reported. The disorder is almost always lethal (review by Faye-Petersen et al., 2006).

SECOND BRANCHIAL CLEFT ANOMALY Is also known as dysgnathia complex agnathia-holoprosencephaly|otocephaly|second branchial cleft cyst|holoprosencephaly-agnathia|second branchial cleft fistula

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Abnormal facial shape
  • Cleft palate
  • Low-set ears


SOURCES: ORPHANET OMIM MENDELIAN

More info about SECOND BRANCHIAL CLEFT ANOMALY

Low match KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1


Klippel-Feil syndrome (KFS) is a congenital anomaly characterized by a defect in the formation or segmentation of the cervical vertebrae, resulting in a fused appearance. The clinical triad consists of short neck, low posterior hairline, and limited neck movement, although less than 50% of patients demonstrate all 3 clinical features (Tracy et al., 2004). Genetic Heterogeneity of Klippel-Feil SyndromeAdditional forms of KFS include autosomal recessive KFS2 (OMIM ), caused by mutation in the MEOX1 gene (OMIM ) on chromosome 17q21, autosomal dominant KFS3 (OMIM ), caused by mutation in the GDF3 gene (OMIM ) on chromosome 12p13, and autosomal recessive KFS4 (OMIM ), caused by mutation in the MYO18B gene (OMIM ) on chromosome 22q12.See also MURCS association (OMIM ), in which Klippel-Feil anomaly is associated with urogenital anomalies.

KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1 Is also known as cervical vertebral fusion, autosomal dominant|kfs

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1

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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 PFEIFFER SYNDROME TYPE 2


Pfeiffer syndrome type 2 (PS2) is a frequent and severe type of Pfeiffer syndrome (PS; see this term), characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hypertelorism
  • Cleft palate


SOURCES: ORPHANET MENDELIAN

More info about PFEIFFER SYNDROME TYPE 2

Low match DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES; DIAR3


DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES; DIAR3 Is also known as diarrhea 3, secretory sodium, congenital, syndromic|csd|sodium diarrhea, congenital

Related symptoms:

  • Short stature
  • Hypertelorism
  • Micrognathia
  • Cleft palate
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES; DIAR3

Low match STROMME SYNDROME; STROMS


Stromme syndrome is an autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy. Affected individuals typically have some type of intestinal atresia, variable ocular abnormalities, microcephaly, and sometimes involvement of other systems, including renal and cardiac. In some cases, the condition is lethal in early life, whereas other patients show normal survival with or without mild cognitive impairment (summary by Filges et al., 2016).

STROMME SYNDROME; STROMS Is also known as jejunal atresia with microcephaly and ocular anomalies|apple peel syndrome with microcephaly and ocular anomalies|ciliary dyskinesia, primary, 31, formerly|cild31, formerly

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: MESH OMIM MENDELIAN

More info about STROMME SYNDROME; STROMS

Low match PFEIFFER SYNDROME TYPE 3


Pfeiffer syndrome type 3 (PS3) is a severe type of Pfeiffer syndrome (PS; see this term), characterized by bicoronal craniosynostosis, severe associated functional disorders, and hand, foot and elbow abnormalities.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Hypertelorism
  • Cleft palate


SOURCES: ORPHANET MENDELIAN

More info about PFEIFFER SYNDROME TYPE 3

Low match CORNELIA DE LANGE SYNDROME 4; CDLS4


Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Cleft palate
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 4; CDLS4

Low match SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY; SRTD3


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 3 WITH OR WITHOUT POLYDACTYLY; SRTD3 Is also known as srps2b|polydactyly with neonatal chondrodystrophy, type iii|verma-naumoff syndrome|asphyxiating thoracic dystrophy 3|short rib-polydactyly syndrome, type i|polydactyly with neonatal chondrodystrophy, type i|srps3|short rib-polydactyly syndrome, type iib|s

Related symptoms:

  • Short stature
  • Scoliosis
  • Cleft palate
  • Brachydactyly
  • Talipes equinovarus


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY; SRTD3

Top 5 symptoms//phenotypes associated to Cleft palate and Intestinal malrotation

Symptoms // Phenotype % cases
Low-set ears Common - Between 50% and 80% cases
Anal atresia Common - Between 50% and 80% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Respiratory distress Uncommon - Between 30% and 50% cases
Tracheomalacia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cleft palate and Intestinal malrotation. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Toe syndactyly Short stature Wide nasal bridge Agenesis of corpus callosum Choanal atresia Micrognathia Hearing impairment Transposition of the great arteries Small hand Intellectual disability Short nose Ventricular septal defect

Rare Symptoms - Less than 30% cases


Brachydactyly Aqueductal stenosis Broad hallux phalanx Cerebellar hypoplasia Short hallux Preaxial polydactyly Laryngomalacia Duodenal atresia Increased intracranial pressure Arnold-Chiari malformation Broad thumb Proptosis High forehead Seizures Global developmental delay Scoliosis Short foot Macrocephaly High palate Depressed nasal bridge Hydrocephalus Abnormality of the pinna Finger syndactyly Cleft upper lip Limitation of joint mobility Stenosis of the external auditory canal Atresia of the external auditory canal Syndactyly Oral cleft Pulmonary hypoplasia Renal agenesis Oligohydramnios Hydronephrosis Sex reversal Pulmonic stenosis Cleft lip Microcephaly Abnormality of cardiovascular system morphology Ptosis Talipes equinovarus Holoprosencephaly Abnormal heart morphology Situs inversus totalis Hallux varus Polydactyly Polyhydramnios Atrial septal defect Conductive hearing impairment Short palpebral fissure Cerebellar vermis hypoplasia Renal hypoplasia Intestinal atresia Optic nerve hypoplasia Optic nerve coloboma Rectovaginal fistula Short columella Peters anomaly Microcornea Sclerocornea Ectopia pupillae Prominent nose Ureteral duplication Iris coloboma Intractable diarrhea Retinal vascular tortuosity Deeply set eye Microphthalmia Myopathy Cognitive impairment Cataract Secretory diarrhea Astigmatism Protracted diarrhea Wide mouth Coloboma Villous atrophy Prominent nasal bridge Malabsorption Accessory spleen Hyperactivity Bilateral renal hypoplasia Metaphyseal irregularity Micropenis Micromelia Flat face Postaxial polydactyly Limb undergrowth Ambiguous genitalia Abnormality of the genital system Renal dysplasia Short ribs Polycystic kidney dysplasia Hand polydactyly Metaphyseal widening Cone-shaped epiphysis Hypoplasia of the ulna Respiratory insufficiency Thoracic hypoplasia Femoral bowing Metaphyseal dysplasia Fibular hypoplasia Enlarged kidney Thoracic dysplasia Bifid tongue Lateral clavicle hook Cerebellar cyst Horizontal ribs Absent tibia Hamartoma of tongue Acetabular spurs Severe short stature Prominent eyelashes Hypoplastic iris stroma Gastroesophageal reflux Jejunal atresia Corneal astigmatism Midface retrusion Vesicoureteral reflux Amblyopia Horseshoe kidney Brachyturricephaly Anteverted nares Long philtrum Clinodactyly Clinodactyly of the 5th finger Upslanted palpebral fissure Abnormality of digit Thin upper lip vermilion Vertebral clefting Attention deficit hyperactivity disorder Pectus carinatum Synophrys Smooth philtrum Thick eyebrow Highly arched eyebrow Hemivertebrae Finger clinodactyly Radioulnar synostosis Cutis marmorata Short femoral neck Slender finger Submucous cleft hard palate Exostoses Corneal erosion Growth delay Mild short stature Low posterior hairline Proboscis Aglossia Synotia Sensorineural hearing impairment Short neck Microtia Facial asymmetry Webbed neck Otitis media Abnormality of the ribs Abnormality of the genitourinary system Laryngeal hypoplasia Relative macrocephaly Unilateral renal agenesis Rocker bottom foot Mixed hearing impairment Vertebral fusion Sprengel anomaly External ear malformation Fused cervical vertebrae Stiff neck Bimanual synkinesia Alobar holoprosencephaly Hypoplasia of the epiglottis Congenital muscular torticollis Adrenal gland agenesis Intrauterine growth retardation Hypospadias Congenital diaphragmatic hernia Pulmonary artery stenosis Abnormality of the adrenal glands Abnormality of the penis Ovotestis Hypoplasia of the bladder Bilateral lung agenesis Malrotation of small bowel Abnormal facial shape Mandibular aplasia Downslanted palpebral fissures Posteriorly rotated ears Narrow mouth Retrognathia Abnormality of the eye Hypoplasia of the maxilla Hypotelorism Abnormality of the outer ear Microglossia Hyperplasia of the maxilla Posterior fossa cyst Abnormal vertebral segmentation and fusion Preauricular pit Abnormality of metabolism/homeostasis Pulmonary artery hypoplasia Mitral atresia Dextrotransposition of the great arteries Posteriorly placed anus Malar flattening Visual loss Cloverleaf skull Deviation of the thumb Vomiting Diarrhea Acidosis Common atrium Abnormality of the liver Single transverse palmar crease Metabolic acidosis Abdominal distention Bifid uvula Gastrointestinal hemorrhage Abnormal intestine morphology Cutis laxa Hyponatremia Keratitis Single ventricle Biliary atresia Cervical C2/C3 vertebral fusion Respiratory tract infection Moderate hearing impairment Abnormality of limb bone morphology Decreased cervical spine mobility Mild conductive hearing impairment Limited neck range of motion Cervicomedullary schisis Failure to thrive Patent ductus arteriosus Arrhythmia Recurrent respiratory infections Dyskinesia Heterotaxy Cardiomegaly Dextrocardia Ciliary dyskinesia Abnormal lung lobation Double outlet right ventricle Myelomeningocele Polysplenia Asplenia Pulmonary artery atresia Abdominal situs inversus Metaphyseal spurs



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