Cleft palate, and Pancreatitis

Diseases related with Cleft palate and Pancreatitis

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


Top matches:

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 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 HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY


Classic homocystinuria is an autosomal recessive metabolic disorder of sulfur metabolism. The clinical features of untreated homocystinuria due to CBS deficiency usually manifest in the first or second decade of life and include myopia, ectopia lentis, mental retardation, skeletal anomalies resembling Marfan syndrome (MFS ), and thromboembolic events. Light skin and hair can also be present. Biochemical features include increased urinary homocystine and methionine. There are 2 main phenotypes of the classic disorder: a milder pyridoxine (vitamin B6)-responsive form, and a more severe pyridoxine-nonresponsive form. Pyridoxine is a cofactor for the CBS enzyme, and can aid in the conversion of homocysteine to cysteine (summary by Reish et al., 1995 and Testai and Gorelick, 2010).Some patients have been reported to have a milder form of homocystinuria, which is characterized by increased plasma homocysteine and increased risk for thrombotic events in young adulthood, but without the other skeletal, ocular, or nervous system manifestations observed in classic homocystinuria (Kelly et al., 2003).

HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY Is also known as cystathionine beta-synthase deficiency|cbs deficiency|homocystinuria with or without response to pyridoxine

Related symptoms:

  • Intellectual disability
  • Seizures
  • Failure to thrive
  • High palate
  • Myopia


SOURCES: OMIM MENDELIAN

More info about HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY

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Other less relevant matches:

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

Low match PERLMAN SYNDROME


Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumours (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism.

PERLMAN SYNDROME Is also known as nephroblastomatosis, fetal ascites, macrosomia, and wilms tumor|nephroblastomatosis-fetal ascites-macrosomia-wilms tumor syndrome|renal hamartomas, nephroblastomatosis, and fetal gigantism

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PERLMAN SYNDROME

Low match SOTOS SYNDROME 3; SOTOS3


Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Neoplasm
  • Cleft palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about SOTOS SYNDROME 3; SOTOS3

Low match SHWACHMAN-DIAMOND SYNDROME 2; SDS2


Shwachman-Diamond syndrome-2 (SDS2) is characterized by exocrine pancreatic dysfunction, hematopoietic abnormalities, short stature, and metaphyseal dysplasia (Stepensky et al., 2017).For a discussion of genetic heterogeneity of Shwachman-Diamond syndrome, see SDS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about SHWACHMAN-DIAMOND SYNDROME 2; SDS2

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

Low match JOHANSON-BLIZZARD SYNDROME


Johanson-Blizzard syndrome (JBS) is a multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability.

JOHANSON-BLIZZARD SYNDROME Is also known as jbs|nasal alar hypoplasia, hypothyroidism, pancreatic achylia, and congenital deafness

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about JOHANSON-BLIZZARD SYNDROME

Low match SIMPSON-GOLABI-BEHMEL SYNDROME


Simpson-Golabi-Behmel syndrome (SGBS, also referred to as SGBS type 1) is a rare X-linked multiple congenital anomalies syndrome, characterized by pre- and postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly and an increased tumor risk.

SIMPSON-GOLABI-BEHMEL SYNDROME Is also known as sgbs|sgbs1|simpson-golabi-behmel syndrome type 1|golabi-rosen syndrome|sdys|x-linked dysplasia gigantism syndrome|dysplasia gigantism syndrome, x-linked|simpson dysmorphia syndrome|dgsx|bulldog syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SIMPSON-GOLABI-BEHMEL SYNDROME

Top 5 symptoms//phenotypes associated to Cleft palate and Pancreatitis

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Microcephaly Hydronephrosis Abnormality of cardiovascular system morphology Tall stature Inguinal hernia Dilatation Polyhydramnios Exocrine pancreatic insufficiency Hypertension Failure to thrive Hypertelorism Hypospadias Hepatomegaly Muscular hypotonia Hypoplasia of penis Multicystic kidney dysplasia Hydroureter Ureteral duplication Hypothyroidism Anteverted nares Neurodevelopmental delay Large for gestational age Macrocephaly Umbilical hernia Nephroblastoma Low-set, posteriorly rotated ears Abdominal distention Intestinal malrotation Overgrowth High palate Postaxial hand polydactyly Neoplasm Edema Congenital diaphragmatic hernia Macroglossia Hearing impairment Short nose Epicanthus Wide nasal bridge Abnormality of the dentition Clinodactyly of the 5th finger Round face Agenesis of corpus callosum Dandy-Walker malformation Abnormality of the skeletal system Enlarged kidney Obesity Myopia Short stature Cleft lip Growth delay Abnormal facial shape Hypoglycemia Intellectual disability, severe

Rare Symptoms - Less than 30% cases


Full cheeks Pancreatic cysts Broad alveolar ridges Abnormal heart morphology Upslanted palpebral fissure Scoliosis Atrial septal defect Low-set ears Depressed nasal bridge Cardiomyopathy Talipes equinovarus Abnormality of the pancreas Long philtrum Preaxial hand polydactyly Short toe Underdeveloped nasal alae Finger syndactyly Elevated hepatic transaminase Alopecia Renal insufficiency Downslanted palpebral fissures Diabetes mellitus Hyperactivity Micropenis Brittle hair Autism Retinal detachment Ventricular septal defect High, narrow palate Hernia Broad nasal tip Hepatoblastoma Diastasis recti Posterior helix pit Neuroblastoma Relative macrocephaly Accelerated skeletal maturation Anemia Omphalocele Neurological speech impairment Wide mouth Severe muscular hypotonia Coarse facial features Mandibular prognathia Proptosis Splenomegaly Aplasia/Hypoplasia of the abdominal wall musculature Steatorrhea Abnormality of pancreas morphology Nephroblastomatosis Pancreatic islet-cell hyperplasia Visceromegaly Cataract Hydrocephalus Renal neoplasm Polysplenia Strabismus Situs inversus totalis Renal dysplasia Cardiomegaly Furrowed tongue Pectus excavatum Facial asymmetry Disproportionate tall stature Open mouth Constipation Widely spaced teeth Aggressive behavior Diarrhea Downturned corners of mouth Muscular hypotonia of the trunk Volvulus Thick vermilion border Poor speech Arachnodactyly Vesicoureteral reflux Growth hormone deficiency Portal hypertension Long face Abnormality of the liver Small for gestational age Sloping forehead Microcornea Ankyloglossia Duodenal atresia Anophthalmia Aplasia/Hypoplasia of the corpus callosum Increased IgE level Encephalocele Bowing of the long bones Flared iliac wings Depressed nasal ridge Ambiguous genitalia Abnormality of the helix Microphthalmia Talipes Oligohydramnios Anencephaly Congenital hepatic fibrosis Male pseudohermaphroditism True hermaphroditism Transposition of the great arteries Abnormal lung lobation Fatigue Broad foot Intrauterine growth retardation Cognitive impairment Sensorineural hearing impairment Cystic liver disease Lobar holoprosencephaly Pancreatic fibrosis Postaxial foot polydactyly Aplasia/Hypoplasia of the tongue Urethral atresia Abnormal chorioretinal morphology Aplasia/Hypoplasia of the iris Accessory spleen Low hanging columella Chordee Asplenia Sclerocornea Optic atrophy Clumsiness Cervical ribs Adrenocortical cytomegaly Neutropenia Respiratory tract infection Thrombocytopenia Feeding difficulties Duplication of renal pelvis Six lumbar vertebrae Subchorionic septal cyst Large intestinal polyposis Submucous cleft lip Abnormality of the shape of the midface Congenital megaureter Penoscrotal transposition Large placenta Cleft lower lip Branchial cyst Infra-orbital crease Adrenocortical carcinoma Facial hemangioma Cyst of the ductus choledochus Urogenital fistula Leiomyosarcoma Elevated alpha-fetoprotein High myopia Rhizomelia Hyperechogenic pancreas Broad toe Laryngeal cleft Subglottic stenosis Meckel diverticulum Normocytic anemia Prolonged prothrombin time Prolonged partial thromboplastin time Mild global developmental delay Severe failure to thrive Embryonal neoplasm Metaphyseal dysplasia Mild short stature Birth length greater than 97th percentile Metaphyseal irregularity Metaphyseal widening Laryngomalacia Genu varum Penoscrotal hypospadias Short 2nd finger Short sacroiliac notch 2-3 finger syndactyly Narrow sacroiliac notch Broad secondary alveolar ridge Broad palm Prolonged QT interval Abnormality of digit Increased VLDL cholesterol concentration Midline skin dimples over anterior/posterior fontanelles Hypoplasia of the primary teeth Urethrovaginal fistula Abnormality of the female genitalia Broad thumb Malrotation of small bowel Anasarca Septate vagina Cerebral visual impairment Absent lacrimal punctum Colonic diverticula Abnormality of the genital system Abnormality of the nares Uterus didelphys Frontal upsweep of hair Skin dimples Aplasia cutis congenita of scalp Abnormal vagina morphology Lacrimation abnormality Rectovaginal fistula Hypoproteinemia Abnormal hair pattern Short neck Blindness Fair hair Short distal phalanx of finger Small nail Abnormality of the ribs Nail dysplasia Webbed neck Dental malocclusion Bifid uvula Renal cyst Short foot Postaxial polydactyly Wide nose Short palm Syndactyly Thin vermilion border Cleft upper lip Pulmonic stenosis Toe syndactyly Congenital cataract Camptodactyly of finger Irritability Polydactyly Arrhythmia Patent ductus arteriosus Calvarial skull defect Anal stenosis Vertebral fusion Malabsorption Cholestasis Sparse scalp hair Microdontia Convex nasal ridge Generalized muscle weakness Hypoplasia of the maxilla Delayed eruption of teeth Single transverse palmar crease Hepatic failure Anal atresia Hypotrichosis Abnormality of the nail Dilated cardiomyopathy Bundle branch block Abnormal cardiac septum morphology Postnatal growth retardation Joint laxity Supernumerary nipple Severe short stature Delayed skeletal maturation Cerebellar vermis hypoplasia Vertebral segmentation defect Cafe-au-lait spot Bilateral talipes equinovarus Preauricular skin tag Abnormality of the hand Facial cleft Hoarse voice Cardiac arrest Hypoplastic nipples Hypopituitarism Anteriorly placed anus Glycosuria Congenital hip dislocation Agenesis of permanent teeth Narrow palpebral fissure Dextrocardia Hypocalcemia Congenital sensorineural hearing impairment Clitoral hypertrophy Abnormality of the voice Choroideremia Abnormality of the genitourinary system Oligodontia Cupped ear Hyperbilirubinemia Preauricular pit Pointed chin Anterior creases of earlobe Midface retrusion Asymmetric growth Behavioral abnormality Limitation of joint mobility Hypopigmentation of the skin Hepatic steatosis Pectus carinatum Stroke Kyphoscoliosis Glaucoma Osteoporosis Acidosis Depressivity Macrotia Myocardial infarction Difficulty walking EEG abnormality Megaduodenum Hypoperistalsis Gastrointestinal obstruction Neuroma Barrett esophagus Urethral obstruction Megacystis Prune belly Mitral valve prolapse Dental crowding Pollakisuria Homocystinuria Dystonia Hypogonadism Frontal bossing Tremor Brachydactyly Ataxia Gait ataxia Hypermethioninemia Personality disorder Biconcave vertebral bodies Cerebral edema Aspiration Precocious atherosclerosis Generalized osteoporosis Peripheral arterial stenosis Transient ischemic attack Pulmonary embolism Thromboembolism Cutis marmorata Obsessive-compulsive behavior Ectopia lentis Schizophrenia Atherosclerosis Microcolon Urinary retention Proteinuria Abdominal obesity Vomiting Myopathy Dysphagia Skeletal muscle atrophy Fever Peripheral neuropathy Inability to walk Pain Tall chin Birth length less than 3rd percentile Male hypogonadism Pneumonia Large earlobe Depressed nasal tip External genital hypoplasia Agitation Drooling Spastic tetraparesis Progressive microcephaly Lower limb spasticity Tetraparesis Tapered finger Lactic acidosis Abdominal pain Intestinal pseudo-obstruction External ophthalmoplegia Abdominal situs inversus Peritonitis Achalasia Chronic constipation Episodic abdominal pain Hyperparathyroidism Anonychia Malnutrition Intestinal obstruction Hypoalbuminemia Horseshoe kidney Weight loss Recurrent urinary tract infections Aganglionic megacolon Interphalangeal joint contracture of finger Narrow chest Ophthalmoplegia Broad forehead Prominent nasal bridge Joint stiffness Attention deficit hyperactivity disorder Severe global developmental delay Delayed puberty Babinski sign Telecanthus Abnormality of earlobe Femoral hernia Nephrogenic rest Renal hamartoma Hypoplasia of the abdominal wall musculature Naevus flammeus of the eyelid Thymus hyperplasia Fetal ascites Abnormality of upper lip Lumbar scoliosis Long upper lip Intestinal atresia Interrupted aortic arch Distal ileal atresia Thickened helices Hypoxemia Thick upper lip vermilion Capillary hemangioma Nystagmus Hamartoma Global brain atrophy Spasticity Hyperinsulinemia Polycystic kidney dysplasia Ileal atresia Prominent xiphoid process Tented upper lip vermilion Prominent occiput Pseudohypoparathyroidism Otosclerosis Rhabdomyosarcoma Gonadoblastoma Hemihypertrophy Multiple renal cysts Nevus flammeus Neonatal hypoglycemia Prominent metopic ridge Polycythemia Melanocytic nevus Hypertrophic cardiomyopathy Redundant skin Hypercalciuria Arnold-Chiari malformation Sleep apnea Wide anterior fontanel Nephrolithiasis Large fontanelles Prominent nose Premature birth Nephropathy Feeding difficulties in infancy Growth abnormality Bilateral single transverse palmar creases Sparse hair Open bite Hamartoma of tongue Lobulated tongue Accessory oral frenulum Deviation of finger Hypoplasia of the zygomatic bone Abnormality of the skull Median cleft lip Foot polydactyly Tarsal synostosis Milia Cone-shaped epiphysis Lip pit Chronic otitis media Hand polydactyly Coarse hair Reduced bone mineral density Abnormality of dental enamel Hypertonia Abnormality of the face Choanal atresia Absent speech Hypodontia Dry skin Tongue nodules Odontogenic neoplasm Hepatic fibrosis Abnormality of the pinna Status epilepticus Lumbar hyperlordosis Delayed speech and language development Abnormality of the cardiovascular system Specific learning disability Hyperreflexia Ascites Flat face Smooth philtrum Dolichocephaly Hyperlordosis Hypoplasia of the corpus callosum Abnormality of the kidney Deeply set eye Hepatosplenomegaly Retrognathia High forehead Prominent forehead Posteriorly rotated ears Cerebral atrophy Respiratory distress Ventriculomegaly Ptosis Two carpal ossification centers present at birth



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Developmental regression, related diseases and genetic alterations Microphthalmia and Severe global developmental delay, related diseases and genetic alterations High palate and Conductive hearing impairment, related diseases and genetic alterations Low-set ears and Arthrogryposis multiplex congenita, related diseases and genetic alterations

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