Cleft palate, and Urinary incontinence

Diseases related with Cleft palate and Urinary incontinence

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


Top matches:

Medium match NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO; NTD


Neural tube defects are the second most common type of birth defect after congenital heart defects. The 2 most common NTDs are open spina bifida, also known as spina bifida cystica (SBC) or myelomeningocele, and anencephaly (OMIM ) (Detrait et al., 2005). Spina bifida occulta (SBO), a bony defect of the spine covered by normal skin, is a mild form of spina bifida that is often asymptomatic. The term 'spinal dysraphia' refers to both SBC and SBO (Botto et al., 1999; Fineman et al., 1982). The most severe neural tube defect, craniorachischisis (CRN), leaves the neural tube open from the midbrain or rostral hindbrain to the base of the spine (summary by Robinson et al., 2012).Neural tube defects represent a complex trait with multifactorial etiology encompassing both genetic and environmental components (summary by Bartsch et al., 2012 and Lei et al., 2014).An X-linked form of spina bifida has been suggested; see {301410}. See also folate-sensitive neural tube defects (OMIM ), which are caused by genes involved in folate metabolism.

Related symptoms:

  • Hydrocephalus
  • Abnormality of cardiovascular system morphology
  • Abnormal heart morphology
  • Cleft lip
  • Urinary incontinence


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO; NTD

Medium match OROFACIODIGITAL SYNDROME XVIII; OFD18


Orofaciodigital syndrome-18 is characterized by short stature, brachymesophalangy, pre- and postaxial polysyndactyly, and stocky femoral necks, as well as oral anomalies and dysmorphic facial features (Thevenon et al., 2016).

OROFACIODIGITAL SYNDROME XVIII; OFD18 Is also known as ofds xviii|oral-facial-digital syndrome, type xviii

Related symptoms:

  • Short stature
  • Abnormal facial shape
  • Brachydactyly
  • Wide nasal bridge
  • Upslanted palpebral fissure


SOURCES: OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME XVIII; OFD18

Low match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 54


Autosomal recessive spastic paraplegia type 54 (SPG54) is a rare, complex form of hereditary spastic paraplegia characterized by the onset in early childhood of progressive spastic paraplegia associated with cerebellar signs, short stature, delayed psychomotor development, intellectual disability and, less commonly, foot contractures, dysarthria, dysphagia, strabismus and optic hypoplasia. SPG54 is caused by mutations in the DDHD2 gene (8p11.23) encoding phospholipase DDHD2.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 54 Is also known as spg54

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Strabismus
  • Spasticity


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 54

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Other less relevant matches:

Low match 1P31P32 MICRODELETION SYNDROME


1p31p32 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 1, characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures.

1P31P32 MICRODELETION SYNDROME Is also known as monosomy 1p31p32|del(1)(p31p32)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about 1P31P32 MICRODELETION SYNDROME

Low match DISTAL 22Q11.2 MICRODELETION SYNDROME


Distal 22q11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 22, with a highly variable phenotype characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features include prominent forehead, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities, hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognatia and pointed chin. For certain very distal deletions, there is a risk of developing malignant rhabdoid tumours.

DISTAL 22Q11.2 MICRODELETION SYNDROME Is also known as distal del(22)(q11.2)|distal monosomy 22q11.2

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about DISTAL 22Q11.2 MICRODELETION SYNDROME

Low match LATERAL MENINGOCELE SYNDROME


Lateral meningocele syndrome is a rare disorder characterized by distinctive facial features, hyperextensibility, hypotonia, and characteristic lateral meningoceles, which can result in neurologic complications such as bladder dysfunction and neuropathy. Dysmorphic features include dolichocephaly, hypertelorism, ptosis, microretrognathia, high-arched palate, long, flat philtrum, and low-set ears. Multiple additional variable features may also be observed, including cryptorchidism, vertebral anomalies, and connective tissue abnormalities. Early motor development is delayed, but cognition is usually normal (summary by Gripp et al., 2015).

LATERAL MENINGOCELE SYNDROME Is also known as lehman syndrome|lms

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about LATERAL MENINGOCELE SYNDROME

Low match CAYLER CARDIOFACIAL SYNDROME


CAYLER CARDIOFACIAL SYNDROME Is also known as depressor anguli oris muscle, hypoplasia of|facial paresis, partial, unilateral|asymmetric crying facies|acf

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CAYLER CARDIOFACIAL SYNDROME

Low match CAUDAL REGRESSION SEQUENCE


Caudal regression sequence is a rare congenital malformation of the lower spinal segments associated with aplasia or hypoplasia of the sacrum and lumbar spine.

CAUDAL REGRESSION SEQUENCE Is also known as sacral agenesis syndrome|caudal dysplasia|sacral regression syndrome

Related symptoms:

  • Scoliosis
  • Cryptorchidism
  • Hypertension
  • Talipes equinovarus
  • Renal insufficiency


SOURCES: ORPHANET MENDELIAN

More info about CAUDAL REGRESSION SEQUENCE

Low match 22Q11.2 DELETION SYNDROME


22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.

22Q11.2 DELETION SYNDROME Is also known as monosomy 22q11|digeorge sequence|sedlackova syndrome|takao syndrome|velocardiofacial syndrome|shprintzen syndrome|conotruncal anomaly face syndrome|digeorge syndrome|catch 22|cayler cardiofacial syndrome|microdeletion 22q11.2|22q11ds

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about 22Q11.2 DELETION SYNDROME

Low match ACHONDROPLASIA; ACH


Achondroplasia is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand (summary by Bellus et al., 1995).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: MESH OMIM MENDELIAN

More info about ACHONDROPLASIA; ACH

Top 5 symptoms//phenotypes associated to Cleft palate and Urinary incontinence

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Bowel incontinence Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Inguinal hernia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cleft palate and Urinary incontinence. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Joint hyperflexibility Malar flattening Abnormal facial shape Narrow mouth Prominent nasal bridge Abnormality of cardiovascular system morphology Low-set ears Attention deficit hyperactivity disorder Scoliosis Hydrocephalus Ventricular septal defect Vesicoureteral reflux Seizures Motor delay Hearing impairment Hyperlordosis Cryptorchidism Failure to thrive Smooth philtrum Muscular hypotonia Flexion contracture High palate Recurrent urinary tract infections Arachnodactyly Abnormality of the skeletal system Long face Downslanted palpebral fissures Choanal atresia Telecanthus Obsessive-compulsive behavior Hypertension High, narrow palate Syringomyelia Truncus arteriosus Generalized hypotonia Hypertelorism Hernia Cleft lip Abnormal vertebral morphology Spina bifida Microcephaly Neoplasm Renal hypoplasia Sensorineural hearing impairment Intrauterine growth retardation Atrial septal defect Facial asymmetry Immunodeficiency Upslanted palpebral fissure Thin upper lip vermilion Patent ductus arteriosus Polydactyly Sandal gap Conductive hearing impairment Short distal phalanx of finger Depressivity

Rare Symptoms - Less than 30% cases


Clinodactyly of the 5th finger Short palm Toe syndactyly Growth delay Blepharophimosis Recurrent respiratory infections Deeply set eye Arachnoid cyst Pes planus Aortic aneurysm Highly arched eyebrow Behavioral abnormality Apnea Scarring Abnormal form of the vertebral bodies Arnold-Chiari malformation Nasal speech Back pain Meningocele Platybasia Tetralogy of Fallot Long philtrum Talipes equinovarus Anal atresia Oral cleft Abnormality of pelvic girdle bone morphology Arrhinencephaly Obesity Gastroesophageal reflux Chronic otitis media Umbilical hernia Short neck Premature birth Ulnar deviation of finger Underdeveloped nasal alae Bowing of the long bones Pointed chin Coxa valga Oculomotor apraxia Aortic regurgitation Pyloric stenosis Language impairment Tics Epicanthus Ankyloglossia Abnormality of earlobe Absent toenail Absent fingernail Branchial fistula Micrognathia Pain Ptosis Arnold-Chiari type I malformation Sleep apnea Strabismus Hyperreflexia Short femoral neck Abnormal heart morphology Hydronephrosis Overgrowth Constipation Brachydactyly Slender long bone Wide nasal bridge Frontal bossing Hypocalcemia Short philtrum Ventriculomegaly Gait disturbance Hypoplasia of the corpus callosum Spina bifida occulta Overfolded helix Macrocephaly Corneal neovascularization Cutis marmorata Abnormality of the uterus Chronic obstructive pulmonary disease Hypoplasia of the thymus Atelectasis Varicose veins Abnormal eyelid morphology Tetany Small earlobe Seborrheic dermatitis Abnormal aortic arch morphology Delayed speech and language development Anemia Occipital myelomeningocele Abnormality of the tonsils Tricuspid atresia Multiple suture craniosynostosis Hypertensive crisis Abnormal thrombocyte morphology Retinal arteriolar tortuosity Anorectal anomaly Abnormal pulmonary valve morphology Impaired T cell function Abnormality of the pharynx Abnormal aortic valve morphology Abnormality of the skull Abnormal lung lobation Multiple renal cysts Feeding difficulties in infancy Gastrointestinal hemorrhage Intestinal malrotation Asthma Bulbous nose Carious teeth Autoimmunity Anxiety Aganglionic megacolon Arthritis Myalgia Polyhydramnios Hypothyroidism Autism Glaucoma Hypospadias Specific learning disability Abnormality of dental enamel Patellar dislocation Dysphasia Hypoparathyroidism Turricephaly Bipolar affective disorder Midface retrusion Posterior embryotoxon Foot polydactyly Hyperthyroidism Acne Purpura Abnormality of the thorax Hand polydactyly Cholelithiasis Polycystic kidney dysplasia Laryngomalacia Schizophrenia Hypopigmented skin patches Depressed nasal bridge Leukemia Severe short stature Upper airway obstruction Hypoxemia Multiple epiphyseal dysplasia Cor pulmonale Abnormality of femur morphology Central apnea Dysuria Communicating hydrocephalus Recurrent ear infections Generalized joint laxity Osteopetrosis Megalencephaly Spinal cord compression Obstructive sleep apnea Abnormality of the elbow Myelopathy Thoracolumbar kyphosis Hip contracture Small foramen magnum Myelitis Spinal stenosis with reduced interpedicular distance Trident hand Limited hip extension Brain stem compression Childhood onset short-limb short stature Iritis Chronic myelogenous leukemia Cervical cord compression Hypopnea Obstructive lung disease Cervical myelopathy Central sleep apnea Neonatal short-limb short stature Spinal canal stenosis Neuroblastoma Weight loss Sleep disturbance Osteoarthritis Tetraparesis Epidermal acanthosis Lumbar hyperlordosis Otitis media Lymphoma Confusion Abnormality of the metaphysis Micromelia Microphthalmia Abnormality of the nervous system Rigidity Arthralgia Skeletal dysplasia Recurrent otitis media Abnormal lung morphology Disproportionate short stature Genu varum Myeloid leukemia Tibial bowing Limited elbow extension Flared metaphysis Spondyloepiphyseal dysplasia Epiphyseal dysplasia Tinnitus Rhizomelia Disproportionate short-limb short stature Short long bone Infantile muscular hypotonia Acanthosis nigricans Paraparesis Clonus Short toe Thrombocytopenia Hypoplastic vertebral bodies Splenomegaly Spasticity Diastema Cervical ribs Accessory oral frenulum Square face Small forehead Agenesis of incisor Dysarthria Median cleft lip Dysphagia Babinski sign Spastic paraplegia Paraplegia Lower limb muscle weakness Spastic gait Feeding difficulties Peripheral neuropathy Progressive spasticity Recurrent pneumonia Low posterior hairline Abnormality of the skin Iris coloboma Joint hypermobility Dolichocephaly Postaxial polydactyly Drooling Kyphosis Preaxial polydactyly Kyphoscoliosis Proptosis Posteriorly rotated ears Short middle phalanx of finger Pectus excavatum Optic nerve hypoplasia Abnormality of the periventricular white matter Dental crowding Partial absence of the septum pellucidum Polymicrogyria Hip dysplasia Pigmentary retinopathy Short chin Aplasia/Hypoplasia of the corpus callosum Abnormality of the urinary system Craniofacial asymmetry Broad forehead Intraventricular hemorrhage Ureterocele Metopic synostosis Broad face Sparse eyebrow Narrow nose Thin vermilion border Retinopathy Periventricular leukomalacia Hypertonia Tip-toe gait Optic disc hypoplasia Periventricular white matter hyperdensities Contractures involving the joints of the feet Cognitive impairment Anteverted nares Short nose Craniosynostosis Camptodactyly of finger Dilatation Agenesis of corpus callosum Prominent forehead Hyperactivity Jaundice Genu valgum Narrow face Intellectual disability, mild Spinal dysraphism Renal agenesis Pulmonary hypoplasia Lipoma Myelomeningocele Joint stiffness Renal insufficiency Asymmetric crying face Reduced tendon reflexes Dermoid cyst Body odor Small face Preauricular pit Cupped ear Congenital contracture Ambiguous genitalia Anencephaly Congenital hip dislocation Absent septum pellucidum Abnormality of the dentition Optic atrophy Cataract Abnormality of the wing of the ilium Aplasia/Hypoplasia of the sacrum Abnormal vertebral segmentation and fusion Multiple lipomas Impulsivity Ureteral duplication Maternal diabetes Missing ribs Abnormality of the ureter Decreased muscle mass Ectopic kidney Hemangioma Preauricular skin tag Increased bone mineral density Asymmetry of spinal facet joints Osteolytic defects of the phalanges of the hand Craniorachischisis Prominent metopic ridge Thickened calvaria Vertebral fusion Neurofibromas Atresia of the external auditory canal Abnormality of the rib cage Coarse hair Bicuspid aortic valve Osteolysis Microretrognathia Narrow palate Wormian bones Craniofacial hyperostosis Generalized osteosclerosis Interphalangeal joint contracture of finger Basilar impression Abnormality of the thymus Hip dislocation Facial palsy Absence of the sacrum Cerebellar atrophy Short nasal bridge Abnormality of the middle ear ossicles Low back pain Dural ectasia Large sella turcica Sclerosis of skull base Tethered cord Biconcave vertebral bodies Neural tube defect Lumbar kyphosis in infancy



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