Cleft palate, and Neoplasm of the pancreas

Diseases related with Cleft palate and Neoplasm of the pancreas

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


Top matches:

Low match BECKWITH-WIEDEMANN SYNDROME; BWS


Beckwith-Wiedemann syndrome is a pediatric overgrowth disorder involving a predisposition to tumor development. The clinical presentation is highly variable; some cases lack the hallmark features of exomphalos, macroglossia, and gigantism as originally described by Beckwith (1969) and Wiedemann (1969) (summary by Weksberg et al., 2010).Mussa et al. (2016) provided a review of Beckwith-Wiedemann syndrome, including the wide spectrum of phenotypic manifestations, delineation of the frequencies of manifestations according to genotype, and discussion of the molecular and epigenetic defects that underlie the disorder.

BECKWITH-WIEDEMANN SYNDROME; BWS Is also known as emg syndrome|exomphalos-macroglossia-gigantism syndrome|wiedemann-beckwith syndrome|wbs

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about BECKWITH-WIEDEMANN SYNDROME; BWS

Low match PANCREATIC CANCER, SUSCEPTIBILITY TO, 2


PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 Is also known as pnca2

Related symptoms:

  • Neoplasm of the pancreas


SOURCES: OMIM MENDELIAN

More info about PANCREATIC CANCER, SUSCEPTIBILITY TO, 2

Low match MECKEL SYNDROME


Meckel syndrome (MKS) is a rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation (mainly occipital encephalocele), large polycystic kidneys, and polydactyly, as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia.

MECKEL SYNDROME Is also known as meckel-gruber syndrome

Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Cleft palate
  • Cataract


SOURCES: ORPHANET MENDELIAN

More info about MECKEL SYNDROME

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Other less relevant matches:

Low match VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS; VACTERLX


VACTERL is an acronym for vertebral anomalies (similar to those of spondylocostal dysplasia), anal atresia, cardiac malformations, tracheoesophageal fistula, renal anomalies (urethral atresia with hydronephrosis), and limb anomalies (hexadactyly, humeral hypoplasia, radial aplasia, and proximally placed thumb; see {192350}). Some patients may have hydrocephalus, which is referred to as VACTERL-H (Briard et al., 1984).

VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS; VACTERLX Is also known as vacterl-h, x-linked

Related symptoms:

  • Hypertelorism
  • Cleft palate
  • Ventricular septal defect
  • Hydrocephalus
  • Abnormality of cardiovascular system morphology


SOURCES: OMIM MENDELIAN

More info about VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS; VACTERLX

Low match MEHMO SYNDROME


MEHMO syndrome is characterised by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism, and obesity. Growth delay and diabetes are also present. To date, it has been described in seven boys, all of whom died within the first two years of life. The causative gene has been localised to the 21.1-22.13p region of the X chromosome and the syndrome appears to result from mitochondrial dysfunction.

MEHMO SYNDROME Is also known as mental retardation, x-linked, syndromic 25|mental retardation, x-linked, syndromic, borck type|x-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome|mrxs25|mrxsbrk|mrxs20|mental retardation, x-linked, syndromic 2

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MEHMO SYNDROME

Low match SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY; SRTD6


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 6 WITH OR WITHOUT POLYDACTYLY; SRTD6 Is also known as majewski syndrome|short rib-polydactyly syndrome, type ii|srps2a|srps, type ii|polydactyly with neonatal chondrodystrophy, type ii|short rib-polydactyly syndrome, type iia

Related symptoms:

  • Short stature
  • Cleft palate
  • Delayed speech and language development
  • Motor delay
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY; SRTD6

Low match CUTIS GYRATA-ACANTHOSIS NIGRICANS-CRANIOSYNOSTOSIS SYNDROME


Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome, also known as Beare-Stevenson syndrome (BSS), is a severe form of syndromic craniosynostosis, characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia). Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay and intellectual disability are observed in most patients who survive infancy.

CUTIS GYRATA-ACANTHOSIS NIGRICANS-CRANIOSYNOSTOSIS SYNDROME Is also known as beare-stevenson syndrome|cutis gyrata syndrome of beare and stevenson|beare-stevenson cutis gyrata syndrome

Related symptoms:

  • Global developmental delay
  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Cryptorchidism


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CUTIS GYRATA-ACANTHOSIS NIGRICANS-CRANIOSYNOSTOSIS SYNDROME

Low match OROFACIODIGITAL SYNDROME I; OFD1


Orofaciodigital syndrome type I (OFD1) is characterized by malformations of the face, oral cavity, and digits and is transmitted as an X-linked dominant condition with lethality in males. Thickened alveolar ridges and abnormal dentition, including absent lateral incisors, are additional characteristics of OFD1. The central nervous system may also be involved in as many as 40% of cases. Although these clinical features overlap those reported in other forms of orofaciodigital syndrome, OFD1 can be easily distinguished from among these by its X-linked dominant inheritance pattern and by polycystic kidney disease, which seems to be specific to type I (summary by Ferrante et al., 2001).Since the CXORF5 gene localizes to the centrosome and basal body of primary cilia, OFD1 is considered to be a ciliopathy (Chetty-John et al., 2010).

OROFACIODIGITAL SYNDROME I; OFD1 Is also known as oral-facial-digital syndrome, type i|papillon-leage and psaume syndrome|ofds i

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME I; OFD1

Low match VISCERAL MYOPATHY; VSCM


Familial visceral myopathy is a rare inherited form of myopathic pseudoobstruction, characterized by impaired function of enteric smooth muscle cells resulting in abnormal intestinal mobility, severe abdominal pain, malnutrition, and even death (Lehtonen et al., 2012). Visceral myopathy represents a phenotypic spectrum of disease characterized by inter- and intrafamilial variability, in which the most severely affected patients exhibit prenatal bladder enlargement, intestinal malrotation, neonatal functional gastrointestinal obstruction, and chronic dependence on total parenteral nutrition (TPN) and urinary catheterization (summary by Wangler et al., 2014).Another form of visceral myopathy with functional gastrointestinal obstruction is associated with external ophthalmoplegia (OMIM ).Functional gastrointestinal obstruction also occurs in association with other abnormalities, such as 'prune belly' syndrome (OMIM ) and Barrett esophagus (Mungan syndrome; {611376}). Chronic intestinal pseudoobstruction can also be neuropathic in origin (see {609629}).

VISCERAL MYOPATHY; VSCM Is also known as megacystis-microcolon-intestinal hypoperistalsis syndrome|infantile visceral myopathy|mmih|megaduodenum and/or megacystis|pseudoobstruction, idiopathic intestinal|berdon syndrome

Related symptoms:

  • Microcephaly
  • Failure to thrive
  • Micrognathia
  • Cleft palate
  • Pain


SOURCES: OMIM MENDELIAN

More info about VISCERAL MYOPATHY; VSCM

Low match OROFACIODIGITAL SYNDROME TYPE 1


Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females.

OROFACIODIGITAL SYNDROME TYPE 1 Is also known as ofd1|papillon-lÉage-psaume syndrome|ofdsi|oral-facial-digital syndrome type 1|ofdi

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Hypertelorism


SOURCES: ORPHANET MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 1

Top 5 symptoms//phenotypes associated to Cleft palate and Neoplasm of the pancreas

Symptoms // Phenotype % cases
Hypertelorism Common - Between 50% and 80% cases
Cryptorchidism Uncommon - Between 30% and 50% cases
Hydrocephalus Uncommon - Between 30% and 50% cases
Micrognathia Uncommon - Between 30% and 50% cases
Hypertension Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cleft palate and Neoplasm of the pancreas. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Hydronephrosis Abnormal heart morphology Pancreatic cysts Agenesis of corpus callosum Microcephaly Dilatation Polycystic kidney dysplasia Abnormality of the kidney Intestinal malrotation Dandy-Walker malformation Seizures Short stature Umbilical hernia Abnormality of the pancreas Preaxial hand polydactyly Polydactyly Postaxial hand polydactyly Cleft lip Hearing impairment Brachydactyly Median cleft lip Downslanted palpebral fissures Global developmental delay Abnormality of cardiovascular system morphology Overgrowth Low-set, posteriorly rotated ears

Rare Symptoms - Less than 30% cases


Ventricular septal defect Tongue nodules Ambiguous genitalia Lobulated tongue Proteinuria Telecanthus Sparse hair Dolichocephaly Facial asymmetry Asplenia Multicystic kidney dysplasia Pancreatic fibrosis Deviation of finger Optic atrophy Sloping forehead Full cheeks Underdeveloped nasal alae Milia Urethral atresia Tremor Alopecia Ventriculomegaly Narrow chest Craniosynostosis Hepatic fibrosis Pancreatitis Hamartoma of tongue Round face Anteverted nares Prominent nasal bridge Choanal atresia Abnormality of the face Macrotia Micropenis Abnormality of the skull Horseshoe kidney Delayed speech and language development Hypoplasia of the zygomatic bone Strabismus High palate Epicanthus Wide nasal bridge Atrioventricular canal defect Frontal bossing Hand polydactyly Abnormality of the dentition Renal insufficiency Arnold-Chiari malformation Prune belly Oral cleft Attention deficit hyperactivity disorder Proptosis Enlarged kidney Foot polydactyly Respiratory distress Edema Atrial septal defect Hyperactivity Polyhydramnios Macrocephaly Hypoglycemia Recurrent urinary tract infections Vesicoureteral reflux Abdominal distention Renal cyst Postaxial polydactyly Pulmonary hypoplasia Respiratory insufficiency Midface retrusion Pain Generalized hypotonia Abnormal facial shape Spondylometaphyseal dysplasia Skin tags Breech presentation Short ribs Choanal stenosis Coarse hair Tricuspid regurgitation Hearing abnormality Brittle hair Turricephaly Underdeveloped supraorbital ridges Anteriorly placed anus Natal tooth Limited elbow extension Reduced bone mineral density Abnormality of dental enamel Lip pit Craniofacial dysostosis Palmoplantar cutis gyrata Prominent scrotal raphe Prominent umbilicus Palmoplantar cutis laxa Cerebellar vermis hypoplasia Pachygyria Abnormality of the genital system Melanocytic nevus Visceral angiomatosis Oxycephaly Thickened helices Hydrops fetalis Cloverleaf skull Redundant neck skin Aplasia/Hypoplasia of the earlobes Bifid scrotum Redundant skin Lateral clavicle hook Disproportionate shortening of the tibia Microglossia Depressed nasal bridge Short tibia Thoracic dysplasia Dilation of lateral ventricles Ptosis Postaxial polysyndactyly of foot Malar flattening Polysyndactyly of hallux Shortening of the tibia Hypoplasia of the epiglottis Abnormality of the larynx Broad alveolar ridges Horizontal ribs Median cleft lip and palate Exocrine pancreatic insufficiency Narrow mouth Reduced number of teeth Subcutaneous nodule Abnormality of vision Chronic otitis media Acanthosis nigricans Narrow palate Abnormality of the nail Cone-shaped epiphysis Gingival overgrowth Low-set ears Accessory oral frenulum Open bite Tarsal synostosis Small nail Epidermal acanthosis Palmoplantar keratoderma Mesomelia Abnormality of the eye Preauricular skin furrow Hypoalbuminemia Short toe Hydroureter Abnormality of toe Multiple glomerular cysts Alveolar ridge overgrowth Gray matter heterotopias Hypothalamic hamartoma Malnutrition Anonychia Narrow naris Disproportionate tall stature Failure to thrive Hyperparathyroidism Hepatic cysts Episodic abdominal pain Chronic constipation Porencephalic cyst Dry hair Achalasia Volvulus Trident hand Peripheral neuropathy Ovarian cyst Weight loss Aganglionic megacolon Interphalangeal joint contracture of finger Arachnodactyly Portal hypertension Ophthalmoplegia Broad forehead Abnormality of the liver Joint stiffness Abdominal pain Fever Pneumonia Constipation Diarrhea Intestinal obstruction Vomiting Myopathy Dysphagia Skeletal muscle atrophy Peritonitis Aplasia/Hypoplasia of the abdominal wall musculature Hypodontia Clinodactyly Carious teeth Abnormality of the cerebral white matter Neuroma Gastrointestinal obstruction Hypoperistalsis Megaduodenum Ataxia Abnormality of the skeletal system Depressivity Urethral obstruction Dystonia Syndactyly Clinodactyly of the 5th finger Elevated hepatic transaminase Finger syndactyly External ophthalmoplegia Dry skin Dysarthria Barrett esophagus Stage 5 chronic kidney disease Bifid tongue Urinary retention Abnormal cortical gyration Myelomeningocele Retinal dystrophy Abdominal situs inversus Increased number of teeth Nephronophthisis Intestinal pseudo-obstruction Agenesis of permanent teeth Molar tooth sign on MRI Megacystis Radial deviation of finger Pollakisuria Cutaneous syndactyly Microretrognathia Hypoplasia of dental enamel Microcolon Bifid uvula Abnormal cerebellum morphology Arachnoid cyst Long face Cleft upper lip Embryonal neoplasm Nephroblastomatosis Thymus hyperplasia Abdominal mass Opsoclonus Posterior helix pit Ganglioneuroma Adrenocortical carcinoma Flank pain Renal cortical cysts Hepatoblastoma Adrenocortical cytomegaly Abdominal wall defect Teratoma Diaphragmatic eventration Unilateral cryptorchidism Rhabdomyosarcoma Abnormality of the tongue Visceromegaly Hypoplasia of the thymus Gonadoblastoma Vitreomacular adhesion Overgrowth of external genitalia Nonimmune hydrops fetalis Encephalocele Furrowed tongue Sclerocornea Postaxial foot polydactyly Male pseudohermaphroditism Anencephaly Anophthalmia Aplasia/Hypoplasia of the corpus callosum Situs inversus totalis Bowing of the long bones Depressed nasal ridge Pancreatic hyperplasia Oligohydramnios Microcornea Talipes Microphthalmia Cataract Congenital mesoblastic nephroma Pancreatoblastoma Fibrous hamartoma Hemihypertrophy Diastasis recti Ureteral duplication Coarse facial features Cardiomegaly Nevus Macroglossia Postural instability Joint hypermobility Wide mouth Intellectual disability, moderate Carcinoma Conductive hearing impairment Hypothyroidism Large fontanelles Respiratory failure Myoclonus Hernia Short nose Intellectual disability, mild Cardiomyopathy Intrauterine growth retardation Hepatomegaly Neoplasm Omphalocele Nephrolithiasis Ketosis Tibial bowing Neonatal hypoglycemia Nevus flammeus Protuberant abdomen Aniridia Prominent metopic ridge Congenital hypothyroidism Neuroblastoma Hamartoma Broad palm Abnormality of the ear Nephrocalcinosis Prominent occiput Large for gestational age Large hands Nephroblastoma Hypercalciuria Prominent supraorbital ridges Growth abnormality Abnormality of the outer ear Accelerated skeletal maturation Congenital hepatic fibrosis Accessory spleen Astigmatism Small for gestational age Broad nasal tip Tapered finger Downturned corners of mouth Thick vermilion border Inability to walk Lactic acidosis Poor speech Delayed puberty Severe global developmental delay Muscular hypotonia of the trunk Hypoplasia of penis Aggressive behavior EEG abnormality Difficulty walking Acidosis Autism Gait ataxia Diabetes mellitus Hypogonadism Babinski sign Growth hormone deficiency Tetraparesis Obesity Abdominal obesity Hypermetropia Platyspondyly Pectus carinatum Skeletal dysplasia Brachycephaly Severe short stature Motor delay Tall chin Birth length less than 3rd percentile Male hypogonadism Open mouth Large earlobe Depressed nasal tip External genital hypoplasia Agitation Drooling Widely spaced teeth Spastic tetraparesis Progressive microcephaly Lower limb spasticity Hypospadias Absent speech Aplasia/Hypoplasia of the iris Thin vermilion border Transposition of the great arteries Abnormality of the vertebral column Partial agenesis of the corpus callosum Tracheoesophageal fistula Proximal placement of thumb Deep philtrum Atresia of the external auditory canal Abnormal vertebral morphology Short thumb Anal atresia Absent radius Pulmonic stenosis Microtia Abnormality of the pinna Retrognathia Cystic liver disease Lobar holoprosencephaly True hermaphroditism Aplasia/Hypoplasia of the tongue Abnormal chorioretinal morphology Short humerus Esophageal atresia Long philtrum Growth delay Hypertonia Intellectual disability, severe Hypoplasia of the corpus callosum Talipes equinovarus Myopia Hyperreflexia Spasticity Muscular hypotonia Nystagmus Isomerism Broad neck Bilateral trilobed lungs Bronchogenic cyst Bilateral radial aplasia Arteria lusoria Persistent left superior vena cava Pancreatic hypoplasia Heterotaxy Aqueductal stenosis Double outlet right ventricle Odontogenic neoplasm



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