Dysarthria, and Intestinal malrotation

Diseases related with Dysarthria and Intestinal malrotation

In the following list you will find some of the most common rare diseases related to Dysarthria and Intestinal malrotation that can help you solving undiagnosed cases.

Top matches:

Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome is a rare, genetic, syndromic intellectual disability syndrome characterized by mild to moderate intellectual disability, developmental delay (with speech and language development more severely affected) and facial dysmorphism which typically includes full, arched eyebrows, hypertelorism, down-slanting palpebral fissures, long eyelashes, ptosis, low-set, simple ears, bulbous nasal tip, flat philtrum, wide mouth with downturned corners and thin upper lip and diastema of the teeth. Association with infantile hypotonia, seizures, cryptorchidism in males and congenital abnormalities, including cardiac, cerebral or occular defects, may be observed.

INTELLECTUAL DISABILITY-CRANIOFACIAL DYSMORPHISM-CRYPTORCHIDISM SYNDROME Is also known as mental retardation, autosomal dominant 17|mrd17

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-CRANIOFACIAL DYSMORPHISM-CRYPTORCHIDISM SYNDROME

Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.

CARDIOFACIOCUTANEOUS SYNDROME Is also known as cfcs|cfc syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME

Related symptoms:

  • Intellectual disability
  • Seizures
  • Absent speech
  • Tetraplegia
  • Brain atrophy


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 60; EIEE60

Other less relevant matches:

Seizures-scoliosis-macrocephaly syndrome is a rare, genetic neurometabolic disorder characterized by seizures, macrocephaly, delayed motor milestones, moderate intellectual disability, scoliosis with no exostoses, muscular hypotonia present since birth, as well as renal dysfunction. Coarse facial features (including hypertelorism and long hypoplastic philtrum) and bilateral cryptorchidism (in males) are also commonly reported. Additional manifestations include abnormal gastrointestinal motility (resulting in constipation, diarrhea, gastroesophageal reflux and dysphagia), gait disturbances, strabismus and ventricular septal defects.

SEIZURES-SCOLIOSIS-MACROCEPHALY SYNDROME Is also known as ssm syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEIZURES-SCOLIOSIS-MACROCEPHALY SYNDROME

Ritscher-Schinzel syndrome-2 is an X-linked recessive syndromic form of intellectual disability associated with posterior fossa defects, cardiac malformations, and minor abnormalities of the face and distal extremities (summary by Kolanczyk et al., 2015).For a discussion of genetic heterogeneity of Ritscher-Schinzel syndrome, see RTSC1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about RITSCHER-SCHINZEL SYNDROME 2; RTSC2

Branchio-oculo-facial syndrome (BOFS) is characterised by low birth weight and growth retardation, bilateral branchial clefts that may be hemangiomatous, sometimes with linear skin lesions behind the ears ('burn-like' lesions), congenital strabismus, obstructed nasolacrimal ducts, a broad nasal bridge with a flattened nasal tip, a protruding upper lip with an unusually broad and prominent philtrum, and full mouth.

BRANCHIO-OCULO-FACIAL SYNDROME Is also known as bofs|hemangiomatous branchial clefts-lip pseudocleft syndrome|branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature aging|bof syndrome|lip pseudocleft-hemangiomatous branchial cyst syndrome

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about BRANCHIO-OCULO-FACIAL SYNDROME

Low match 3C SYNDROME

Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterized by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies (see these terms).

3C SYNDROME Is also known as dandy-walker-like malformation with atrioventricular septal defect|craniocerebellocardiac dysplasia|3c syndrome|ritscher-schinzel syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 3C SYNDROME

KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS Is also known as blepharophimosis-ptosis-intellectual disability syndrome|bpids

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS

Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development.

X-LINKED INTELLECTUAL DISABILITY, NAJM TYPE Is also known as fgs1|keller syndrome|fg syndrome|fgs|x-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome|mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum|fg syndrome 1|micpch

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, NAJM TYPE

Top 5 symptoms//phenotypes associated to Dysarthria and Intestinal malrotation

Symptoms // Phenotype % cases
Hypertelorism Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Gastroesophageal reflux

Uncommon Symptoms - Between 30% and 50% cases

Strabismus

Common Symptoms - More than 50% cases

Cryptorchidism

Uncommon Symptoms - Between 30% and 50% cases

Ventricular septal defect

Common Symptoms - More than 50% cases

Feeding difficulties

Uncommon Symptoms - Between 30% and 50% cases

Growth delay

Common Symptoms - More than 50% cases

Short stature

Uncommon Symptoms - Between 30% and 50% cases

Low-set ears Posteriorly rotated ears Abnormal cardiac septum morphology Microcephaly Macrocephaly Micrognathia Scoliosis Atrial septal defect Abnormal facial shape Myopia Constipation Ptosis Absent speech Nystagmus Hearing impairment Abnormality of the skeletal system Prominent forehead Abnormal heart morphology Macrotia Ventriculomegaly Downslanted palpebral fissures High palate Depressed nasal bridge Epicanthus Optic atrophy Short neck Patent ductus arteriosus Cleft palate Coloboma Cerebellar hypoplasia Hydronephrosis Narrow palate Sparse hair Abnormality of the kidney Broad nasal tip Low posterior hairline Telecanthus Abnormality of the dentition Wide anterior fontanel Delayed speech and language development Renal agenesis Fine hair Kyphosis Relative macrocephaly Coarse facial features Dolichocephaly Broad forehead Abnormality of cardiovascular system morphology Camptodactyly Upslanted palpebral fissure Neurological speech impairment Syndactyly Feeding difficulties in infancy Low-set, posteriorly rotated ears Inguinal hernia Intellectual disability, severe Poor speech Clinodactyly of the 5th finger Short nose Downturned corners of mouth Aggressive behavior Wide nasal bridge Abnormality of the pinna Iris coloboma Intrauterine growth retardation Failure to thrive Muscular hypotonia Cataract Postnatal growth retardation Flexion contracture Thin upper lip vermilion Neonatal hypotonia Frontal bossing Cleft lip Single transverse palmar crease Hypospadias Hydrocephalus Brachydactyly

Rare Symptoms - Less than 30% cases

Premature skin wrinkling Chorioretinal coloboma Hyperlordosis Abnormality of the sternum Motor delay Sparse eyebrow Anal stenosis High, narrow palate Deep philtrum Poor suck Tetralogy of Fallot Cleft upper lip Optic nerve hypoplasia Hemangioma Preauricular skin tag Cerebral visual impairment Open mouth Hemiparesis Coarctation of aorta Narrow forehead Growth hormone deficiency Webbed neck Dental crowding Brachycephaly Conductive hearing impairment Overlapping toe Respiratory distress Broad hallux Pyloric stenosis Dandy-Walker malformation Oral cleft Unilateral renal agenesis Pulmonary hypoplasia Craniosynostosis Clinodactyly Prominent nasal bridge Plagiocephaly Abnormality of the outer ear Neonatal respiratory distress Polydactyly Preauricular pit Lacrimal duct stenosis Sensorineural hearing impairment Proteinuria Hypoplastic fingernail Auricular pit Abnormal tricuspid valve morphology Dilatation Visual impairment Joint contracture of the hand Anal atresia Abnormal mitral valve morphology Gastrointestinal dysmotility Abdominal distention Microcornea Alopecia High forehead Pulmonic stenosis Behavioral abnormality Astigmatism Diastema Long philtrum Malar flattening Dry skin Single umbilical artery Umbilical hernia Long face Broad thumb Hyperkeratosis Wide intermamillary distance Wide mouth Thick vermilion border Gait disturbance Pes planus Anteverted nares Smooth philtrum Bulbous nose Cerebral cortical atrophy Triangular face Median cleft lip Bilateral cleft lip Lacrimal duct atresia Agenesis of cerebellar vermis Retinal coloboma White forelock Nasolacrimal duct obstruction Fingernail dysplasia Abnormality of the philtrum Everted upper lip vermilion Atypical scarring of skin Thin vermilion border Polycoria Bifid nasal tip Thick nail Branchial fistula Upper lip pit Skeletal dysplasia Glaucoma Attention deficit hyperactivity disorder Recurrent respiratory infections Immunodeficiency Fusion of middle ear ossicles Ectopic thymus tissue Supraauricular pit Severe global developmental delay Duplication of internal organs Dermoid cyst Malrotation of colon Postauricular pit Enlarged vestibular aqueduct Aplasia cutis congenita Unsteady gait Lower lip pit Branchial anomaly Hypoplastic superior helix Small forehead Short nasal septum Preaxial hand polydactyly Hamartoma Facial hypotonia Anteriorly placed anus Nasal speech Dermal atrophy Reduced number of teeth Thoracic scoliosis Skin tags Megalencephaly Multicystic kidney dysplasia Delayed closure of the anterior fontanelle High pitched voice Sagittal craniosynostosis Abnormality of the nasopharynx Elbow flexion contracture Frontal upsweep of hair Prominent fingertip pads Microtia, first degree Short thumb Postnatal macrocephaly Microdontia Partial agenesis of the corpus callosum Multiple joint contractures Non-midline cleft lip Pachygyria Prominent nose Premature graying of hair Supernumerary nipple Lumbar hyperlordosis Thick lower lip vermilion Split hand Choanal atresia Heterotopia Aganglionic megacolon Bowing of the legs Anophthalmia Gynecomastia Sacral dimple Proximal placement of thumb Overfolded helix Preaxial polydactyly Congenital contracture Impulsivity Radial deviation of finger Finger syndactyly Bifid uvula Toe syndactyly Postprandial hyperglycemia Narrow face Female pseudohermaphroditism Sparse and thin eyebrow Hypodontia Thin skin Hypertrichosis Narrow palm Epidermal acanthosis Optic disc pallor Dehydration Postaxial polydactyly Nephrocalcinosis Hirsutism Laryngeal stridor Long palm Carious teeth Onychauxis Blepharophimosis Muscular hypotonia of the trunk Abnormality of the nervous system Hypoglycemia Spasticity Generalized hirsutism Acanthosis nigricans Narrow mouth Advanced eruption of teeth Ovarian cyst Bilateral conductive hearing impairment Long penis Furrowed tongue Ovoid vertebral bodies Progeroid facial appearance Ketoacidosis Bell-shaped thorax Growth hormone excess Hypocholesterolemia Prematurely aged appearance Coarse hair Abnormality of the thyroid gland Abnormality of the upper urinary tract Metatarsus adductus Abnormality of the abdominal wall Broad eyebrow Hyperglycemia Macrodontia Clitoral hypertrophy Precocious puberty Polycystic ovaries Mandibular prognathia Diabetes mellitus Postural instability Wormian bones Congenital glaucoma Mesomelia Prominent occiput Hypoplastic left heart Respiratory failure Abnormality of neuronal migration Aplasia/Hypoplasia of the cerebellum Rigidity Hand polydactyly Abnormality of the hand Hemivertebrae Atrioventricular canal defect Horseshoe kidney Aortic valve stenosis Anxiety Large fontanelles Cerebellar vermis hypoplasia Hypoplasia of penis Joint laxity Intellectual disability, moderate Limb undergrowth Decreased antibody level in blood Abnormality of the hip bone Narrow nasal bridge Recurrent infections Lethal skeletal dysplasia Hypoplasia of the corpus callosum Peripheral neuropathy Cognitive impairment Primum atrial septal defect Cerebellar malformation Humoral immunodeficiency Facial hemangioma Contractures of the large joints Posterior fossa cyst Abnormality of the fontanelles or cranial sutures Complete atrioventricular canal defect Posterior embryotoxon Aplasia/Hypoplasia of the nipples Agenesis of corpus callosum Mitral stenosis Communicating hydrocephalus Enlarged cisterna magna Ectopic anus Missing ribs Pierre-Robin sequence Double outlet right ventricle Hyperactivity Adrenal hypoplasia Insulin resistance Multiple palmar creases Renal cyst Premature birth Cafe-au-lait spot Thickened skin Decreased body weight Inflammatory abnormality of the skin Myocardial infarction Cardiomegaly Abnormality of the cardiovascular system Progressive visual loss Dental malocclusion Vesicoureteral reflux Hyperpigmentation of the skin Nevus Full cheeks Abnormal bleeding Palmoplantar keratoderma Sleep disturbance Hepatic steatosis Retinal dystrophy Bruising susceptibility Falls Joint hypermobility Lymphedema Aspiration Peripheral axonal neuropathy Redundant skin Heart murmur Chronic otitis media Cubitus valgus Melanocytic nevus Ectropion Pleural effusion Scaling skin Bilateral ptosis Failure to thrive in infancy Brittle hair Hyperextensible skin Abnormality of the nail Abnormality of vision Palmoplantar hyperkeratosis Delayed gross motor development Abnormality of the genitourinary system Sleep apnea Aplasia/Hypoplasia of the corpus callosum Abnormal palate morphology Cutis laxa Oculomotor apraxia Sparse eyelashes Abnormality of skin pigmentation Ichthyosis Absent eyebrow Ataxia Splenomegaly Congestive heart failure Hypertonia Vomiting Blindness Edema Cardiomyopathy Dysphagia Hepatomegaly Neoplasm Unilateral cryptorchidism Thrombocytopenia Cavum septum pellucidum Speech apraxia Volvulus Slender finger Low anterior hairline Long eyelashes High myopia Highly arched eyebrow Thick eyebrow Synophrys Cerebral atrophy Hernia Genu valgum Irritability Hypotrichosis Hypermetropia Abnormality of the cerebral white matter Nail dystrophy Pruritus Leukemia Pectus carinatum Scarring Erythema Respiratory tract infection Abnormality of the eye Depressivity Hypertrophic cardiomyopathy EEG abnormality Osteopenia Polyhydramnios Proptosis Autism Hyperhidrosis Delayed skeletal maturation Encephalopathy Pectus excavatum Obsessive-compulsive behavior Large for gestational age Everted lower lip vermilion Cutaneous T-cell lymphoma Spastic tetraplegia Epileptic encephalopathy Brain atrophy Tetraplegia Oral aversion Multiple plantar creases Eyelid fasciculation Abnormality of the auditory canal Inappropriate crying Morphological abnormality of the gastrointestinal tract Hypsarrhythmia Puberty and gonadal disorders Abnormal location of ears Abnormality of the hairline Hyperkeratosis pilaris Tongue thrusting Functional abnormality of the gastrointestinal tract Laryngeal cleft Generalized ichthyosis Hypoplasia of the frontal lobes Optic nerve dysplasia Intellectual disability, profound Hypertension Abnormality of the optic disc Broad neck Small for gestational age Microtia Microphthalmia Intellectual disability, mild Chronic lung disease Laryngomalacia Microretrognathia Muscle stiffness Abnormal lung morphology Dystonia Arachnoid cyst Tremor Protruding tongue Convex nasal ridge Short distal phalanx of finger Short philtrum Hypoplastic philtrum Hemolytic-uremic syndrome Broad-based gait Status epilepticus Hematuria Diarrhea Patchy alopecia Anterior creases of earlobe Open bite Generalized hyperpigmentation Hypoplasia of the zygomatic bone Absent eyelashes Enlarged kidney Arnold-Chiari type I malformation Abnormal eyelash morphology Alopecia of scalp Atopic dermatitis Poor appetite Underdeveloped supraorbital ridges Submucous cleft hard palate Curly hair Abnormality of the gastrointestinal tract Biparietal narrowing Multiple cafe-au-lait spots Abnormal heart valve morphology Long palpebral fissure Infantile spasms Neurofibromas Neurodevelopmental delay Aplasia/Hypoplasia of the eyebrow Hydroureter Malnutrition Abnormality of the ulna Short attention span Frontal balding Subvalvular aortic stenosis Endocarditis Increased nuchal translucency Sparse or absent eyelashes Multiple lentigines Cavernous hemangioma Abnormality of hair texture Excessive wrinkled skin Abnormality of the pulmonary artery Hyperextensibility of the finger joints Abnormal aortic valve morphology Thickened helices Woolly hair Slow-growing hair Deep palmar crease Abnormality of refraction Abnormal myocardium morphology Delayed CNS myelination Abnormality of the testis Abnormality of the optic nerve Dystrophic fingernails Abnormal hair pattern Thick upper lip vermilion Facial wrinkling


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