Cleft palate, and Dysarthria

Diseases related with Cleft palate and Dysarthria

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


Top matches:

Medium match BIFID UVULA


Bifid uvula is a fissure type embryopathy affecting the uvula at the back of the soft palate.

BIFID UVULA Is also known as bifidity of the uvula|uvula, cleft|uvular cleft

Related symptoms:

  • Cleft lip
  • Bifid uvula
  • Submucous cleft soft palate
  • Nasal, dysarthic speech


SOURCES: OMIM ORPHANET MENDELIAN

More info about BIFID UVULA

Low match KALLMANN SYNDROME


Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs).

KALLMANN SYNDROME Is also known as congenital hypogonadotropic hypogonadism with anosmia|olfacto-genital pathological sequence

Related symptoms:

  • Seizures
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: ORPHANET MENDELIAN

More info about KALLMANN SYNDROME

Low match X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE


X-linked intellectual disability, Snyder type is a rare X-linked intellectual disability syndrome characterized by hypotonia, asthenic build with diminished muscle mass, severe generalized psychomotor delay, unsteady gait and moderate to severe intellectual disability, as well as a long, thin, asymmetrical face with prominent lower lip, long fingers and toes and nasal, dysarthric or absent speech. Bone abnormalities (e.g., osteoporosis, kyphoscoliosis, fractures, joint contractures) are also characteristic. Myoclonic, or myoclonic-like, seizures and renal abnormalities have been associated in some patients.

X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE Is also known as snyder-robinson syndrome|snyder-robinson mental retardation syndrome|srs

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE

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Other less relevant matches:

Low match 17P11.2 MICRODUPLICATION SYNDROME


17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 17, typically characterized by hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders (behavioral problems, anxiety, attention deficit hyperactivity disorder, autistic spectrum disorder, bipolar disorder). Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated.

17P11.2 MICRODUPLICATION SYNDROME Is also known as potocki-lupski syndrome|trisomy 17p11.2|chromosome 17p11.2 duplication syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 17P11.2 MICRODUPLICATION SYNDROME

Low match NEMALINE MYOPATHY 2; NEM2


Nemaline myopathy-2 is an autosomal recessive skeletal muscle disorder with a wide range of severity. The most common clinical presentation is early-onset (in infancy or childhood) muscle weakness predominantly affecting proximal limb muscles. Muscle biopsy shows accumulation of Z-disc and thin filament proteins into aggregates named 'nemaline bodies' or 'nemaline rods,' usually accompanied by disorganization of the muscle Z discs. The clinical and histologic spectrum of entities caused by variants in the NEB gene is a continuum, ranging in severity from the severe form with perinatal onset and fetal death to milder forms with later onset. The distribution of weakness can vary from generalized muscle weakness, more pronounced in proximal limb muscles, to distal-only involvement, although neck flexor weakness appears to be rather consistent. Histologic patterns range from a severe usually nondystrophic disturbance of the myofibrillar pattern to an almost normal pattern, with or without nemaline bodies, sometimes combined with cores (summary by Lehtokari et al., 2014).For a discussion of genetic heterogeneity of nemaline myopathy, see NEM3 (OMIM ).Mutations in the NEB gene are the most common cause of nemaline myopathy (Lehtokari et al., 2006).

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism
  • Muscle weakness
  • Cleft palate


SOURCES: OMIM MESH MENDELIAN

More info about NEMALINE MYOPATHY 2; NEM2

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 OCULODENTODIGITAL DYSPLASIA


Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities.

OCULODENTODIGITAL DYSPLASIA Is also known as meyer-schwickerath syndrome|odd syndrome|oculodentoosseous dysplasia|odod|oddd syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about OCULODENTODIGITAL DYSPLASIA

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 MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL; CMS1A


Congenital myasthenic syndromes (CMS) are a group of inherited disorders affecting the neuromuscular junction (NMJ). Patients present clinically with onset of variable muscle weakness between infancy and adulthood. These disorders have been classified according to the location of the defect: presynaptic, synaptic, and postsynaptic, as well as by pathologic mechanism and electrophysiologic studies (i.e., acetylcholine receptor (AChR) deficiency, slow-channel or fast-channel kinetic defects at the AChR) (summary by Engel et al., 2003; Engel et al., 2015). Approximately 10% of CMS cases are presynaptic, 15% are synaptic, and 75% are postsynaptic, the majority of which are caused by AChR deficiency (Engel et al., 2003).Slow-channel congenital myasthenic syndrome (SCCMS) is a disorder of the postsynaptic NMJ characterized by early-onset progressive muscle weakness. The disorder results from kinetic abnormalities of the AChR channel, specifically prolonged opening and activity of the channel, which causes prolonged synaptic currents resulting in a depolarization block. This is associated with calcium overload, which may contribute to subsequent degeneration of the endplate and postsynaptic membrane. Treatment with quinine, quinidine, or fluoxetine may be helpful; acetylcholinesterase inhibitors and amifampridine should be avoided (summary by Engel et al., 2015). Genetic Heterogeneity of Congenital Myasthenic SyndromesRecessive mutations in subunits of the acetylcholine receptor are the most common cause of CMS (Harper, 2004). CMS1A and CMS1B (OMIM ) are caused by mutation in the CHRNA1 gene (OMIM ); CMS2A (OMIM ) and CMS2C (OMIM ) are caused by mutation in the CHRNB1 gene (OMIM ) on 17p12; CMS3A (OMIM ), CMS3B (OMIM ), and CMS3C (OMIM ) are caused by mutation in the CHRND gene (OMIM ) on 2q33; and CMS4A (OMIM ), CMS4B (OMIM ), and CMS4C (OMIM ) are caused by mutation in the CHRNE gene (OMIM ) on 17p13.CMS5 (OMIM ) is caused by mutation in the COLQ gene (OMIM ) on 3p25; CMS6 (OMIM ) is caused by mutation in the CHAT gene (OMIM ) on 10q; CMS7 (OMIM ) is caused by mutation in the SYT2 gene (OMIM ) on 1q32; CMS8 (OMIM ) is caused by mutation in the AGRN gene (OMIM ) on 1p; CMS9 (OMIM ) is caused by mutation in the MUSK gene (OMIM ) on 9q31; CMS10 (OMIM ) is caused by mutation in the DOK7 gene (OMIM ) on 4p; CMS11 (OMIM ) is caused by mutation in the RAPSN gene (OMIM ) on 11p11; CMS12 (OMIM ) is caused by mutation in the GFPT1 gene (OMIM ) on 2p14; CMS13 (OMIM ) is caused by mutation in the DPAGT1 gene (OMIM ) on 11q23; CMS14 (OMIM ) is caused by mutation in the ALG2 gene (OMIM ) on 9q22; CMS15 (OMIM ) is caused by mutation in the ALG14 gene (OMIM ) on 1p21; CMS16 (OMIM ) is caused by mutation in the SCN4A gene (OMIM ) on 17q; CMS17 (OMIM ) is caused by mutation in the LRP4 gene (OMIM ) on 11p12; CMS18 (OMIM ) is caused by mutation in the SNAP25 gene (OMIM ) on 20p11; CMS19 (OMIM ) is caused by mutation in the COL13A1 gene (OMIM ) on 10q22; CMS20 (OMIM ) is caused by mutation in the SLC5A7 gene (OMIM ) on 2q12; CMS21 (OMIM ) is caused by mutation in the SLC18A3 gene (OMIM ) on 10q11; and CMS22 (OMIM ) is caused by mutation in the PREPL gene (OMIM ) on 2p21.

MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL; CMS1A Is also known as cms iia, formerly|myasthenic syndrome, congenital, type iia, formerly|cms2a, formerly

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Ptosis
  • High palate
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL; CMS1A

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 41; MRD41


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • High palate


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 41; MRD41

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

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
High palate Common - Between 50% and 80% cases
Microcephaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Brachydactyly Downslanted palpebral fissures Epicanthus Bifid uvula Abnormality of the dentition Micrognathia Scoliosis Mandibular prognathia Hearing impairment Ptosis Cryptorchidism Muscle weakness Dental crowding Dysphagia Myopia Syndactyly Global developmental delay Short stature Polydactyly Generalized hypotonia Cleft lip Carious teeth Sparse hair Abnormality of cardiovascular system morphology Ataxia Muscular hypotonia Gait disturbance Frontal bossing Cognitive impairment Facial asymmetry Wide nasal bridge Low-set ears Strabismus Feeding difficulties

Rare Symptoms - Less than 30% cases


Nasal speech Disproportionate tall stature Long fingers Epileptic spasms Slender build Motor delay EEG abnormality High hypermetropia Spasticity Apnea Neonatal hypotonia Abnormal heart morphology Abnormality of the kidney Fragile nails Edema Postaxial polydactyly Abnormality of the skeletal system Microphthalmia Visual loss Glaucoma Dry hair Median cleft lip Agenesis of permanent teeth Milia Hypotrichosis Cleft upper lip Hypoplasia of dental enamel Underdeveloped nasal alae Palmoplantar keratoderma Oral cleft Myopathy Abnormality of the cerebral white matter Telecanthus Proteinuria Clinodactyly Cerebral calcification Hydrocephalus Paraparesis Spastic paraparesis Narrow nose Generalized muscle weakness Limb muscle weakness Abnormality of the eye Facial palsy Hyperpigmentation of the skin Cataract Arachnodactyly Tremor Smooth philtrum Delayed speech and language development Kyphoscoliosis Recurrent fractures Visual impairment Abnormal facial shape Talipes equinovarus Pectus excavatum Brachycephaly Nystagmus Micropenis Reduced number of teeth Hypogonadotrophic hypogonadism Pectus carinatum Anteverted nares Abnormality of the pinna Camptodactyly Paraplegia Spastic tetraparesis Abnormality of the fingernails Cervical ribs Abnormality of dental enamel Skeletal muscle atrophy Ophthalmoplegia Abnormality of the nail Lymphedema Abnormality of the metaphysis Abnormal form of the vertebral bodies Short palpebral fissure Tetraparesis Fine hair Lower limb muscle weakness Abnormality of vision Brittle hair Bilateral ptosis Curly hair Cardiac fibroma Taurodontia Irregular ossification of hand bones Abnormality of the clavicle Hypoparathyroidism Hamartomatous stomach polyps External ear malformation Premature loss of teeth Hyperactive deep tendon reflexes Basal ganglia calcification Preaxial polydactyly Metaphyseal dysplasia Narrow nasal bridge Progressive spasticity Abnormality of the ear Non-midline cleft lip Hyperostosis Preaxial hand polydactyly Aplasia/Hypoplasia of the cerebellum Cubitus valgus Hand polydactyly Progressive muscle weakness Type 2 muscle fiber atrophy Hypotelorism Upslanted palpebral fissure Blepharophimosis Abnormality of the nervous system Conductive hearing impairment Deeply set eye Hypoglycemia Umbilical hernia High forehead Infantile spasms Clinodactyly of the 5th finger Finger syndactyly Arrhythmia Enuresis Short nose Blindness Atrial septal defect Ventricular septal defect Oval face Optic atrophy Camptodactyly of finger Hip dislocation Ophthalmoparesis Prolonged miniature endplate currents Overgrowth Difficulty climbing stairs Microdontia Fatigable weakness Bridged sella turcica Hand muscle atrophy Decreased size of nerve terminals Intermittent episodes of respiratory insufficiency due to muscle weakness Microcornea Cone-shaped epiphysis Babinski sign Small hand Short metacarpal Flat face Paresthesia Toe syndactyly Hypsarrhythmia Spastic paraplegia Short chin Low hanging columella Abnormality of the nose Retinal dysplasia Nephritis Basal cell carcinoma Short distal phalanx of the thumb Palmar pits Orbital cyst Calcification of falx cerebri Inflammation of the large intestine Histiocytoma Melanocytic nevus Glomerulonephritis Multiple impacted teeth Relative macrocephaly Neoplasm of the skin Curved fingers Bifid ribs Spina bifida occulta Hemivertebrae Cardiac rhabdomyoma Muscle stiffness Short ribs Severe hydrocephalus Vertebral fusion Bradycardia Neoplasm of the endocrine system Ectopic calcification Medulloblastoma Astrocytoma Brain neoplasm Hamartomatous polyposis Fibroma Ulcerative colitis Broad face Abnormality of the sense of smell Abnormality of the neck Colitis Vertebral wedging Parietal bossing Short 4th metacarpal Ovarian carcinoma Skin tags Down-sloping shoulders Sprengel anomaly Thoracic scoliosis Abnormality of the sternum Spina bifida Exotropia Mild global developmental delay Odontogenic keratocysts of the jaw Madelung deformity Broad alveolar ridges Progressive spastic paraparesis Narrow nasal ridge Abnormal diaphysis morphology Premature loss of primary teeth Pseudohypoparathyroidism Selective tooth agenesis Broad columella Joint contracture of the 5th finger Trichorrhexis nodosa Short middle phalanx of the 5th finger Slow-growing hair Neurogenic bladder Supernumerary ribs Ovarian fibroma Plantar pits Abnormal cortical bone morphology Short hallux Cranial hyperostosis Aplasia/Hypoplasia of the middle phalanges of the hand Abnormality of the ribs Abdominal pain Hypotension Nevus Iris coloboma Papule Coloboma Carcinoma Coarse facial features Retrognathia Proptosis Macrocephaly Optic nerve dysplasia Pain Neoplasm Thin anteverted nares Vertebral hyperostosis 4-5 finger syndactyly Abnormality iris morphology Tooth abscess 3-4 toe syndactyly Hyperintensity of cerebral white matter on MRI Hemiparesis Agenesis of corpus callosum Hyperreflexia Focal motor seizures Gastroesophageal reflux Hypothyroidism Autism Hyperactivity Intellectual disability, mild Hypoplasia of the corpus callosum Failure to thrive Asymmetry of the ears Long palm Narrow palm Low-set, posteriorly rotated ears Long hallux Small earlobe Hyperextensibility of the finger joints Slender finger Decreased muscle mass Sparse eyebrow Spontaneous abortion Narrow face Tall stature Anxiety Feeding difficulties in infancy Thick lower lip vermilion Stereotypy Abnormality of dental morphology Oral-pharyngeal dysphagia Language impairment Trigonocephaly Failure to thrive in infancy Patent foramen ovale Infantile muscular hypotonia Sleep apnea Hypercholesterolemia Abnormality of the cardiovascular system Autistic behavior Dental malocclusion Delayed myelination Triangular face Hypoplasia of the maxilla Hypermetropia Small for gestational age Broad forehead Attention deficit hyperactivity disorder Wide mouth Broad-based gait Intellectual disability, profound Dysphasia Renal agenesis Decreased fertility Abnormality of color vision Abnormality of the voice Anosmia Reduced bone mineral density Gynecomastia Primary amenorrhea Hypoplasia of penis Decreased testicular size Ichthyosis Anterior hypopituitarism Delayed puberty Pes planus Skeletal dysplasia Pes cavus Delayed skeletal maturation Obesity Sensorineural hearing impairment Nasal, dysarthic speech Submucous cleft soft palate Hyposmia Abnormality of female internal genitalia High myopia Prominent nasal bridge Wide intermamillary distance Webbed neck Generalized myoclonic seizures Postural instability High, narrow palate Bulbous nose Unsteady gait Abnormality of movement Synophrys Short philtrum Breast hypoplasia Intellectual disability, moderate Difficulty walking Narrow mouth Osteoporosis Myoclonus Absent speech Hypothalamic gonadotropin-releasing hormone deficiency Erectile abnormalities Dyspareunia Bimanual synkinesia Open bite Poor eye contact Trident hand Hypertension Cutaneous syndactyly Microretrognathia Hepatic fibrosis Abnormal cerebellum morphology Stage 5 chronic kidney disease Alopecia Depressivity Dilatation Renal insufficiency Late-onset distal muscle weakness Radial deviation of finger Mitochondrial depletion Transient myeloproliferative syndrome Severe hydrops fetalis Calf muscle pseudohypertrophy Multiple pterygia Hand clenching Neck flexor weakness Abnormality of the rib cage Type 1 muscle fiber predominance Polycystic kidney dysplasia Molar tooth sign on MRI Fetal akinesia sequence Pancreatic cysts Abnormality of toe Multiple glomerular cysts Alveolar ridge overgrowth Gray matter heterotopias Hypothalamic hamartoma Tongue nodules Lobulated tongue Narrow naris Deviation of finger Hepatic cysts Nephronophthisis Porencephalic cyst Ovarian cyst Abnormality of the pancreas Bifid tongue Abnormal cortical gyration Myelomeningocele Arachnoid cyst Increased number of teeth Atrioventricular canal defect Nemaline bodies EMG: neuropathic changes Bipolar affective disorder Receptive language delay Hyperlordosis Proximal muscle weakness Polyhydramnios Hyporeflexia Areflexia Hypospadias Long philtrum Respiratory insufficiency Flexion contracture Central sleep apnea Muscular dystrophy Expressive language delay Prominent nasal tip Poor fine motor coordination Abnormality of the pharynx Hypocholesterolemia Abnormal renal morphology Speech apraxia Abnormality of chromosome segregation Echolalia Distal muscle weakness Arthrogryposis multiplex congenita Cystic hygroma Pterygium Spinal rigidity Bulbar palsy Pericardial effusion Mildly elevated creatine phosphokinase Multiple joint contractures Myopathic facies Rocker bottom foot Akinesia Congenital contracture Adducted thumb Talipes EMG: myopathic abnormalities Respiratory insufficiency due to muscle weakness Foot dorsiflexor weakness Hydrops fetalis Large fontanelles Frequent falls Decreased fetal movement Waddling gait Inability to walk Falls Enuresis nocturna



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Macrocephaly and Frontal bossing, related diseases and genetic alterations Visual impairment and Hydrocephalus, related diseases and genetic alterations Cryptorchidism and Ptosis, related diseases and genetic alterations Cleft palate and Macroglossia, related diseases and genetic alterations

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