Cleft palate, and Abdominal pain

Diseases related with Cleft palate and Abdominal pain

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


Top matches:

Low match POSTAXIAL POLYDACTYLY-ANTERIOR PITUITARY ANOMALIES-FACIAL DYSMORPHISM SYNDROME


Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome is a rare, genetic developmental defect during embryogenesis disorder characterized primarily by congenital hypopituitarism and/or postaxial polydactyly. It can be associated with short stature, delayed bone age, hypogonadotropic hypogonadism, and/or midline facial defects (e.g. hypotelorism, mild midface hypoplasia, flat nasal bridge, and cleft lip and/or palate). Hypoplastic anterior pituitary and ectopic posterior pituitary lobe are frequent findings on MRI examination.

POSTAXIAL POLYDACTYLY-ANTERIOR PITUITARY ANOMALIES-FACIAL DYSMORPHISM SYNDROME Is also known as pallister-hall syndrome 2, formerly|culler-jones syndrome|phs2, formerly

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about POSTAXIAL POLYDACTYLY-ANTERIOR PITUITARY ANOMALIES-FACIAL DYSMORPHISM 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 AARSKOG-SCOTT SYNDROME; AAS


Aarskog-Scott syndrome, also known as faciogenital dysplasia, is an X-linked disorder characterized by short stature, hypertelorism, shawl scrotum, and brachydactyly, although there is wide phenotypic variability and other features, such as joint hyperextensibility, short nose, widow's peak, and inguinal hernia, may also occur. Most patients do not have mental retardation, but some may have neurobehavioral features. Carrier females may present with subtle features, such as widow's peak or short stature (summary by Orrico et al., 2010).

AARSKOG-SCOTT SYNDROME; AAS Is also known as aarskog syndrome, x-linked|faciodigitogenital syndrome|fgdy|faciogenital dysplasia

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AARSKOG-SCOTT SYNDROME; AAS

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Low match ATELOSTEOGENESIS, TYPE I; AO1


Atelosteogenesis is the name given by Maroteaux et al. (1982) to a lethal chondrodysplasia characterized by distal hypoplasia of the humeri and femurs, hypoplasia of the midthoracic spine, occasionally complete lack of ossification of single hand bones, and the finding in cartilage of multiple degenerated chondrocytes encapsulated in fibrous tissue. Rimoin et al. (1980) termed it 'giant cell chondrodysplasia.' Patients with AO1 exhibit severe short-limbed dwarfism and dislocated elbows, hips, and knees (Jeon et al., 2014). Genetic Heterogeneity of AtelosteogenesisAtelosteogenesis type II (AO2 ) is caused by mutation in the SLC26A2 gene (OMIM ) on chromosome 5q32. AO3 (OMIM ) is also caused by mutation in the FLNB gene (OMIM ).

ATELOSTEOGENESIS, TYPE I; AO1 Is also known as giant cell chondrodysplasia|spondylohumerofemoral hypoplasia|aoi

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about ATELOSTEOGENESIS, TYPE I; AO1

Low match BASAL CELL NEVUS SYNDROME; BCNS


BASAL CELL NEVUS SYNDROME; BCNS Is also known as nevoid basal cell carcinoma syndrome|gorlin-goltz syndrome|gorlin syndrome|nbccs|multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about BASAL CELL NEVUS SYNDROME; BCNS

Low match COFFIN-SIRIS SYNDROME 1; CSS1


Coffin-Siris syndrome is a multiple malformation syndrome characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails. Other more variable features may include poor overall growth, craniofacial abnormalities, spinal anomalies, and congenital heart defects (review by Vergano and Deardorff, 2014). Mutations in the ARID1B gene are the most common cause of Coffin-Siris syndrome (Wieczorek et al., 2013). Genetic Heterogeneity of Coffin-Siris SyndromeForms of Coffin-Siris syndrome have been shown to be caused by mutations in genes encoding subunits of the SWI/SNF complex, also known as the BAF complex, which functions as a chromatin remodeling factor. These include CSS2 (OMIM ), caused by mutation in the ARID1A gene (OMIM ); CSS3 (OMIM ), caused by mutation in the SMARCB1 gene (OMIM ); CSS4 (OMIM ), caused by mutation in the SMARCA4 gene (OMIM ); CSS5 (OMIM ), caused by mutation in the SMARCE1 gene (OMIM ); CSS6 (OMIM ), caused by mutation in the ARID2 gene (OMIM ); and CSS7 (OMIM ), caused by mutation in the DPF2 gene (OMIM ).A similar phenotype, Nicolaides-Baraitser syndrome (NCBRS ), is also caused by mutation in a subunit of this complex, i.e., SMARCA2 (OMIM ).

COFFIN-SIRIS SYNDROME 1; CSS1 Is also known as fifth digit syndrome|coffin-siris syndrome|mrd12|css|mental retardation, autosomal dominant 12

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 1; CSS1

Low match FOCAL DERMAL HYPOPLASIA


Goltz syndrome or focal dermal hypoplasia is characterized by a polymorphic cutaneous disorder and highly variable anomalies affecting the eyes, teeth, skeleton and the central nervous, urinary, gastrointestinal and cardiovascular systems.

FOCAL DERMAL HYPOPLASIA Is also known as dhof|goltz syndrome|goltz-gorlin syndrome|fodh

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about FOCAL DERMAL HYPOPLASIA

Low match INTELLECTUAL DISABILITY-FEEDING DIFFICULTIES-DEVELOPMENTAL DELAY-MICROCEPHALY SYNDROME


Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by borderline to severe intellectual disability, global development delay, feeding difficulties, microcephaly, short stature and mild facial dysmorphism, including thick eyebrows, long eyelashes, prominent incisors and/or thin upper lip. Other associated features may include hypermetropia with or without esotropia, behavioral anomallies (e.g. autistic behavior, sleeping disturbances), urogenital abnormalities (e.g. crytorchidism, inguinal hernia), single palmar crease, fifth-finger clinodactyly and cardiac defects (e.g. ASD, PDA).

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-FEEDING DIFFICULTIES-DEVELOPMENTAL DELAY-MICROCEPHALY SYNDROME

Low match HEREDITARY ANGIOEDEMA TYPE 1


Hereditary angioedema type 1 (HAE 1) is a form of hereditary angioedema (see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.

HEREDITARY ANGIOEDEMA TYPE 1 Is also known as hae 1|angioneurotic edema, hereditary|hereditary angioneurotic edema type 1|hae-i|hane|c1 esterase inhibitor, deficiency of

Related symptoms:

  • Pain
  • Peripheral neuropathy
  • Dysphagia
  • Respiratory distress
  • Edema


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY ANGIOEDEMA TYPE 1

Low match MUCKLE-WELLS SYNDROME


Muckle-Wells syndrome (MWS) is an intermediate form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type).

MUCKLE-WELLS SYNDROME Is also known as neutrophilic urticaria

Related symptoms:

  • Short stature
  • Anemia
  • Hepatomegaly
  • Fever
  • Optic atrophy


SOURCES: ORPHANET MENDELIAN

More info about MUCKLE-WELLS SYNDROME

Top 5 symptoms//phenotypes associated to Cleft palate and Abdominal pain

Symptoms // Phenotype % cases
Cryptorchidism Common - Between 50% and 80% cases
Pain Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis Global developmental delay Brachydactyly Strabismus Seizures Macrocephaly Vomiting Failure to thrive Micrognathia Hypertelorism Cleft upper lip Umbilical hernia Weight loss Growth delay Abnormality of the skeletal system Neoplasm Intestinal malrotation Hydronephrosis Hydrocephalus Hearing impairment Autistic behavior Joint laxity Horseshoe kidney Respiratory distress Feeding difficulties Low-set ears Generalized hypotonia Inguinal hernia Abnormal heart morphology Clinodactyly Ptosis Hernia Downslanted palpebral fissures Ventricular septal defect Abnormality of the dentition Syndactyly Cleft lip Depressed nasal bridge Dysphagia Patent ductus arteriosus Hypotrichosis Spina bifida occulta Polydactyly

Rare Symptoms - Less than 30% cases


Sparse hair Hypermetropia Abnormality of metabolism/homeostasis Delayed puberty Single transverse palmar crease Abnormality of the genital system Hypodontia Mild short stature Broad foot Short 5th finger Ulcerative colitis Abnormal facial shape Camptodactyly Intrauterine growth retardation Abnormality of digit Alopecia Nystagmus Optic atrophy Atrial septal defect Agenesis of corpus callosum Increased body weight Pectus excavatum Depressivity Obesity Abnormality of the pinna Renal hypoplasia Congenital diaphragmatic hernia Spasticity Camptodactyly of finger Erythema Nausea Coarse facial features Glaucoma Microphthalmia Coloboma Papule Iris coloboma Cataract Hypotension Spina bifida Short nose Short metatarsal Muscle stiffness Short metacarpal Abnormality of the larynx Short ribs Delayed speech and language development Respiratory tract infection Gastroesophageal reflux Mandibular prognathia Broad nasal tip Brachycephaly Glomerulonephritis Inspiratory stridor Recurrent respiratory infections Hypospadias Recurrent infections Vertebral fusion Colitis Frontal bossing Hoarse voice Stridor Proptosis Delayed eruption of teeth Anterior pituitary hypoplasia Growth hormone deficiency Hypotelorism Volvulus Disproportionate tall stature Anonychia Interphalangeal joint contracture of finger Overgrowth Round face Abdominal distention Arachnodactyly Narrow chest Ectopic posterior pituitary Oral cleft Hypertension Peripheral neuropathy Fever Anteverted nares Diarrhea Behavioral abnormality Dilatation Abnormality of cardiovascular system morphology Constipation Pneumonia Low-set, posteriorly rotated ears Postaxial polydactyly Recurrent urinary tract infections Intestinal pseudo-obstruction Delayed skeletal maturation Short neck Wide nasal bridge Hepatomegaly Flexion contracture Anemia Vasculitis Midface retrusion Urticaria Polyhydramnios Recurrent aphthous stomatitis Abnormality of skin pigmentation Split hand Postaxial hand polydactyly Abnormality of the skin Nail dysplasia Elevated alkaline phosphatase Nephrotic syndrome Dental malocclusion Ectodermal dysplasia Precocious puberty Facial asymmetry Omphalocele Conjunctivitis Abnormality of the foot Toe syndactyly Pruritus Nail dystrophy Finger syndactyly Corneal opacity Microtia Cranial nerve paralysis Abnormal palate morphology Thin skin Decreased fetal movement Cerebellar vermis hypoplasia Pointed chin Episcleritis Coxa valga Low anterior hairline Abnormality of dental enamel Accelerated skeletal maturation Multicystic kidney dysplasia Congenital hip dislocation Preauricular skin tag Dandy-Walker malformation Abnormality of the nail Subcutaneous nodule Sacral dimple Short phalanx of finger Abnormality of epiphysis morphology Ichthyosis Tetralogy of Fallot Nephropathy Eczema Telangiectasia Hemangioma Hypoplasia of dental enamel Cough Small nail Cutis marmorata Rectal prolapse Hepatoblastoma Hernia of the abdominal wall Gastric ulcer Generalized hypertrichosis Hypotrichosis of the scalp Long eyelashes Abnormality of the head Aplasia/Hypoplasia of the patella Patellar hypoplasia Tall stature Intussusception Aplasia of the uterus Short sternum Neoplasm of the liver Recurrent hypoglycemia Tics Enlarged cisterna magna Dislocated radial head Abnormality of the nose Partial agenesis of the corpus callosum Ectopic kidney Duodenal ulcer Facial hypertrichosis Abnormality of the voice Progressive sensorineural hearing impairment Abnormal cardiac septum morphology Thick lower lip vermilion Scarring Generalized hirsutism Elevated erythrocyte sedimentation rate Reduced visual acuity Hypertrichosis Hyperhidrosis Blindness Cognitive impairment Premature thelarche Sparse scalp hair Uveitis Choanal atresia Short distal phalanx of the 5th toe Lumbosacral hirsutism Hypoplastic fifth fingernail Renal hypoplasia/aplasia Short distal phalanx of the 5th finger Prominent interphalangeal joints Severe expressive language delay Restrictive ventilatory defect Paresthesia Oligodontia Edema of the dorsum of hands Dermatographic urticaria Abnormality of the mediastinum Abnormal palmar dermatoglyphics Caudal appendage Ridged fingernail Absence of the sacrum Patchy alopecia Upper limb asymmetry Reticular hyperpigmentation Absent fingernail Foot oligodactyly Cryoglobulinemia Facial edema Abnormal soft palate morphology Abnormal respiratory system morphology Abnormality of the middle ear Pharyngeal edema Rough bone trabeculation Intestinal edema Absent toenail Abnormality of the uvula Clitoral hypoplasia Tongue edema Abnormal epiglottis morphology Laryngeal edema Cleft ala nasi Osteopathia striata Papilloma Thin vermilion border Peripheral axonal neuropathy Polycystic ovaries Systemic lupus erythematosus Leukemia Autoimmunity Axonal degeneration Dyspnea Upper airway obstruction Lymphoproliferative disorder Multiple myeloma Edema Coarctation of aorta Midclavicular aplasia Nonproductive cough Midclavicular hypoplasia Ovarian cyst Chronic lymphatic leukemia Giant cell tumor of bone Apocrine hidrocystoma Cholesteatoma Linear hyperpigmentation Ectopia cordis Angioedema Bifid ureter Abnormal adipose tissue morphology Abnormality of the pulmonary vasculature Limbal edema Total anomalous pulmonary venous return Arnold-Chiari malformation Supernumerary nipple Ectrodactyly Facial cleft Aplasia cutis congenita Hypoplastic nipples Anteriorly placed anus Telangiectasia of the skin Aplasia/Hypoplasia of the skin Narrow nasal bridge Macule Mixed hearing impairment Short finger Hypermelanotic macule Open bite Short clavicles Anophthalmia Abnormality of dental morphology Myalgia Chorioretinal coloboma Ectropion Hand polydactyly Brittle hair Dermal atrophy Reduced number of teeth Arthritis Recurrent skin infections Skin rash Oligodactyly Arthralgia Abnormality of salivation Lower limb asymmetry Abnormality of hair texture Abnormal cornea morphology Hand oligodactyly Ureteral duplication Bifid nose Splenomegaly Skin nodule Anomalous pulmonary venous return Hypoplasia of teeth Cholangitis Labial hypoplasia Verrucae Hypoplastic pelvis Aniridia Duodenal atresia Acute hepatic failure Diastasis recti Truncus arteriosus Myelomeningocele Pes cavus Stenosis of the external auditory canal Aplasia/Hypoplasia of the lungs Hiatus hernia Split foot Hypoplasia of the iris Foot polydactyly Ectopia lentis Fragile nails Thick vermilion border Osteochondritis Dissecans Respiratory failure Severe short stature Malar flattening Talipes equinovarus Gait disturbance Hyperreflexia Cervical spine hypermobility Curved linear dimple below the lower lip Increased upper to lower segment ratio Prominent umbilicus Frontoparietal polymicrogyria Hyperextensibility of the finger joints Macrotia Broad philtrum Large earlobe Widow's peak Genu recurvatum Hypoplasia of the odontoid process Shawl scrotum Macrocytic anemia Broad palm Interstitial pulmonary abnormality Radial deviation of finger Increased intracranial pressure Lymphedema Autism Skeletal dysplasia Hypoplasia of the maxilla Sinusitis Oral-pharyngeal dysphagia Elbow dislocation Hyperkinesis Disproportionate short-limb short stature Drooling Abnormality of the outer ear Joint dislocation Absence seizures Recurrent pneumonia Meningitis Aspiration Rhizomelia Deeply set eye Encephalocele Lumbar hyperlordosis Limb undergrowth Otitis media Premature birth Generalized myoclonic seizures Inability to walk Talipes Poor speech Generalized tonic-clonic seizures Hyperlordosis Anxiety Generalized-onset seizure Short foot Flat occiput Skeletal muscle atrophy Hypoalbuminemia External ophthalmoplegia Pancreatitis Aganglionic megacolon Vesicoureteral reflux Ophthalmoplegia Broad forehead Prominent nasal bridge Abnormality of the liver Joint stiffness Myopathy Bilateral postaxial polydactyly Intestinal obstruction Microphallus Adrenocorticotropic hormone deficiency Panhypopituitarism Poor appetite Hypopituitarism High pitched voice Diabetes insipidus Bilateral cryptorchidism Holoprosencephaly Depressed nasal ridge Micropenis Hypogonadism Portal hypertension Malnutrition Short palm Barrett esophagus Polymicrogyria Joint hypermobility Cirrhosis Pulmonic stenosis Attention deficit hyperactivity disorder Pes planus Hyperactivity Intellectual disability, mild Megaduodenum Hypoperistalsis Gastrointestinal obstruction Neuroma Urethral obstruction Hydroureter Megacystis Prune belly Microcolon Pollakisuria Urinary retention Abdominal situs inversus Aplasia/Hypoplasia of the abdominal wall musculature Peritonitis Achalasia Chronic constipation Episodic abdominal pain Hyperparathyroidism Clubbing Spondyloepiphyseal dysplasia Hirsutism Parietal bossing Cardiac rhabdomyoma Bifid ribs Curved fingers Histiocytoma Calcification of falx cerebri Orbital cyst Palmar pits Short distal phalanx of the thumb Severe hydrocephalus Multiple impacted teeth Ovarian carcinoma Vertebral wedging Ovarian fibroma Abnormality of the sense of smell Fibroma Hamartomatous polyposis Cervical ribs Supernumerary ribs Ectopic calcification Medulloblastoma Astrocytoma Brain neoplasm Broad face Neoplasm of the endocrine system Abnormality of the neck Odontogenic keratocysts of the jaw Plantar pits Skin tags Feeding difficulties in infancy Wide nose Short distal phalanx of finger Thick eyebrow Bulbous nose Confusion Astigmatism Synophrys Severe global developmental delay Short philtrum Wide mouth Postnatal growth retardation Aggressive behavior Bridged sella turcica Hypoglycemia Thin upper lip vermilion Posteriorly rotated ears Kyphosis Hypoplasia of the corpus callosum Myopia Visual impairment High palate Muscular hypotonia Hamartomatous stomach polyps Irregular ossification of hand bones Cardiac fibroma Short 4th metacarpal Down-sloping shoulders Tibial bowing Aplasia/Hypoplasia of the ulna Visual loss Dysarthria Epicanthus Motor delay Ataxia Distal tapering femur Multinucleated giant chondrocytes in epiphyseal cartilage Club-shaped proximal femur Thoracic platyspondyly Multiple joint dislocation Laryngeal stenosis Long clavicles Retrognathia Fibular aplasia Coronal cleft vertebrae Lethal skeletal dysplasia Fused cervical vertebrae 11 pairs of ribs Short femur Radial bowing Bell-shaped thorax Loss of speech Short humerus Atonic seizures Progressive spasticity Kyphoscoliosis EEG abnormality Narrow nose Hemivertebrae Sprengel anomaly Thoracic scoliosis Abnormality of the sternum Agenesis of permanent teeth Long fingers Basal cell carcinoma Milia Inflammation of the large intestine Melanocytic nevus Nephritis Relative macrocephaly Neoplasm of the skin Hypogonadotrophic hypogonadism Carcinoma Bradycardia Hyperpigmentation of the skin Exotropia Hemiparesis Abnormality of the ribs Cerebral calcification Nevus Palmoplantar keratoderma Carious teeth Facial palsy Telecanthus Proteinuria Renal amyloidosis



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Hepatomegaly and High, narrow palate, related diseases and genetic alterations Ptosis and Hypospadias, related diseases and genetic alterations Spasticity and Neurological speech impairment, related diseases and genetic alterations Cryptorchidism and Ulcerative colitis, related diseases and genetic alterations

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