Dysarthria, and Cleft upper lip

Diseases related with Dysarthria and Cleft upper lip

In the following list you will find some of the most common rare diseases related to Dysarthria and Cleft upper lip 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

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

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

Other less relevant matches:

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

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

MYASTHENIC SYNDROME, CONGENITAL, 22; CMS22 Is also known as prepl deficiency

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Muscle weakness
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 22; CMS22

Distal arthrogryposis with impaired proprioception and touch is an autosomal recessive neurologic disorder characterized by loss of certain mechanosensation modalities resulting in ataxia, difficulty walking, dysmetria, muscle weakness and atrophy, and progressive skeletal contractures. Patients have onset of symptoms in early childhood (summary by Chesler et al., 2016 and Delle Vedove et al., 2016).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Ataxia
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH; DAIPT

HCFP3 is an autosomal recessive congenital cranial dysinnervation disorder characterized by isolated dysfunction of the seventh cranial nerve resulting in facial palsy. Additional features may include orofacial anomalies, such as smooth philtrum, lagophthalmos, swallowing difficulties, and dysarthria, as well as hearing loss. There is some phenotypic overlap with Moebius syndrome (see, e.g., {157900}), but patients with HCFP usually retain full eye motility or have esotropia without paralysis of the sixth cranial nerve (summary by Vogel et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of hereditary congenital facial paresis, see {601471}.

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Strabismus
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about FACIAL PARESIS, HEREDITARY CONGENITAL, 3; HCFP3

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

Spastic paraplegia-47 is an autosomal recessive neurodegenerative disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by Abou Jamra et al., 2011).

SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47 Is also known as cpsq5, formerly|cerebral palsy, spastic quadriplegic, 5, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47

Top 5 symptoms//phenotypes associated to Dysarthria and Cleft upper lip

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Cleft palate Uncommon - Between 30% and 50% cases
Ptosis Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

High palate Generalized hypotonia Ataxia Wide nasal bridge Epicanthus Muscle weakness Micrognathia Hypertelorism Microcephaly Hearing impairment Cryptorchidism Pes planus Muscular hypotonia Carious teeth Arachnodactyly Facial palsy Bifid uvula Motor delay Cleft lip Paraplegia Camptodactyly Mandibular prognathia Anteverted nares Abnormality of the skeletal system Sparse hair Strabismus Spasticity Gait disturbance Cognitive impairment Feeding difficulties Polydactyly Low-set ears Brachydactyly Abnormality of the dentition Syndactyly Delayed speech and language development Talipes equinovarus Abnormal facial shape

Rare Symptoms - Less than 30% cases

Visual loss Broad-based gait Hypotrichosis Spastic paraplegia Abnormality of the pinna Glaucoma Short nose Abnormality of cardiovascular system morphology Microphthalmia Palmoplantar keratoderma Smooth philtrum Global developmental delay Absent speech Myopia Short philtrum Bulbous nose Reduced number of teeth Cerebral calcification Difficulty walking Waddling gait Recurrent fractures Narrow forehead Flexion contracture Sensorineural hearing impairment Hyperreflexia Disproportionate tall stature Hypogonadotrophic hypogonadism Hyperpigmentation of the skin Coarse facial features Dental crowding Unsteady gait Brachycephaly Pectus excavatum Inability to walk Scoliosis Fragile nails Narrow nose High hypermetropia Narrow nasal bridge Neonatal hypotonia Long fingers Kyphoscoliosis Visual impairment Hydrocephalus Milia Agenesis of permanent teeth Facial asymmetry Downslanted palpebral fissures Dry hair Oral cleft Abnormality of the cerebral white matter Postaxial polydactyly Hypoplasia of dental enamel Tremor Telecanthus Frontal bossing Underdeveloped nasal alae Proteinuria Cataract Nystagmus Median cleft lip Clinodactyly Cystinuria Erectile abnormalities Hyposmia Anterior hypopituitarism Dysmetria Abnormality of female internal genitalia Abnormality of the foot Breast hypoplasia Arthrogryposis multiplex congenita Distal muscle weakness Bimanual synkinesia Dyspareunia Thin upper lip vermilion Hypothalamic gonadotropin-releasing hormone deficiency Tented upper lip vermilion Abnormality of the kidney Areflexia Hypogonadism Respiratory insufficiency Growth hormone deficiency Abnormality of color vision Agenesis of corpus callosum Hypergonadotropic hypogonadism Abnormal heart morphology Peripheral neuropathy Alopecia Decreased fertility Primary amenorrhea Abnormality of the voice Short distal phalanx of the thumb Cardiac rhabdomyoma Bifid ribs Curved fingers Histiocytoma Calcification of falx cerebri Orbital cyst Palmar pits Severe hydrocephalus Ovarian fibroma Multiple impacted teeth Ovarian carcinoma Parietal bossing Vertebral wedging Abnormality of the sense of smell Fibroma Hamartomatous polyposis Odontogenic keratocysts of the jaw Plantar pits Anosmia Delayed puberty Reduced bone mineral density Gynecomastia Peripheral axonal neuropathy Hypoplasia of penis Decreased testicular size Renal agenesis Ichthyosis Skeletal dysplasia Bridged sella turcica Micropenis Pes cavus Delayed skeletal maturation Obesity Stage 5 chronic kidney disease Hamartomatous stomach polyps Irregular ossification of hand bones Cardiac fibroma Depressivity Joint contracture of the hand Dilatation Sparse eyebrow Long hallux Small earlobe Hyperextensibility of the finger joints Slender build Epileptic spasms Slender finger Decreased muscle mass Nasal speech Focal motor seizures Spontaneous abortion Narrow face Tall stature Thick lower lip vermilion Intellectual disability, profound High myopia Wide intermamillary distance Narrow palm Long palm Generalized myoclonic seizures Spastic tetraplegia Acetabular dysplasia Excessive salivation Facial hypotonia Genu recurvatum Abnormality of the periventricular white matter Protruding tongue Open mouth Febrile seizures Asymmetry of the ears Tetraplegia Wide mouth Babinski sign Dystonia Hypertonia Intellectual disability, severe Hypoplasia of the corpus callosum Ventriculomegaly Webbed neck Postural instability Sensory neuropathy Delayed ability to walk Midface retrusion Dysphagia Depressed nasal bridge Impaired tactile sensation Sensory ataxia Impaired proprioception Distal arthrogryposis Long nose Paralysis Myopathic facies Sensory axonal neuropathy Impaired vibratory sensation Poor head control Sandal gap Supernumerary ribs Renal insufficiency Hip dysplasia Posteriorly rotated ears Hypermetropia High, narrow palate Narrow mouth Submucous cleft soft palate Abnormality of movement Synophrys Prominent nasal bridge Nasal, dysarthic speech Pectus carinatum Intellectual disability, moderate Osteoporosis Downturned corners of mouth Myoclonus Hypertension Accommodative esotropia Esophoria High-frequency hearing impairment Facial paralysis Facial diplegia Esotropia Cervical ribs Ulcerative colitis Ectopic calcification Paraparesis Bilateral ptosis Abnormal cortical gyration Abnormality of vision Spastic tetraparesis Abnormality of the fingernails Abnormality of dental enamel Spastic paraparesis Abnormality of the nail Brittle hair Lymphedema Bifid tongue Abnormality of the metaphysis Abnormal form of the vertebral bodies Short palpebral fissure Tetraparesis Fine hair Preaxial polydactyly Hand polydactyly Abnormality of the pancreas Basal ganglia calcification Taurodontia Abnormality of the clavicle Hypoparathyroidism External ear malformation Premature loss of teeth Hyperactive deep tendon reflexes Curly hair Metaphyseal dysplasia Cubitus valgus Arachnoid cyst Myelomeningocele Progressive spasticity Abnormality of the ear Non-midline cleft lip Hyperostosis Preaxial hand polydactyly Aplasia/Hypoplasia of the cerebellum Hypotelorism Overgrowth Low hanging columella Alveolar ridge overgrowth Lobulated tongue Tongue nodules Upslanted palpebral fissure Clinodactyly of the 5th finger Arrhythmia Hypothalamic hamartoma Gray matter heterotopias Multiple glomerular cysts Umbilical hernia Blindness Edema Atrial septal defect Abnormality of toe Ventricular septal defect Trident hand Optic atrophy High forehead Hypoglycemia Microdontia Pancreatic cysts Microcornea Ovarian cyst Flat face Paresthesia Porencephalic cyst Toe syndactyly Hepatic cysts Hip dislocation Deeply set eye Finger syndactyly Camptodactyly of finger Blepharophimosis Deviation of finger Abnormality of the eye Narrow naris Abnormality of the nervous system Conductive hearing impairment Increased number of teeth Retinal dysplasia Medulloblastoma Exotropia Spina bifida occulta Hemivertebrae Muscle stiffness Short ribs Spina bifida Bradycardia Hepatic fibrosis Hemiparesis Relative macrocephaly Abnormality of the ribs Hypotension Nevus Iris coloboma Microretrognathia Papule Coloboma Neoplasm of the skin Glomerulonephritis Carcinoma Down-sloping shoulders Astrocytoma Brain neoplasm Broad face Neoplasm of the endocrine system Abnormality of the neck Short 4th metacarpal Skin tags Sprengel anomaly Nephritis Thoracic scoliosis Abnormality of the sternum Colitis Vertebral fusion Abnormal cerebellum morphology Basal cell carcinoma Inflammation of the large intestine Melanocytic nevus Cutaneous syndactyly EEG abnormality Mild global developmental delay Selective tooth agenesis Madelung deformity Broad alveolar ridges Progressive spastic paraparesis Narrow nasal ridge Abnormal diaphysis morphology Premature loss of primary teeth Pseudohypoparathyroidism Broad columella Joint contracture of the 5th finger Trichorrhexis nodosa Short middle phalanx of the 5th finger Slow-growing hair Neurogenic bladder Abnormality of the nose Abnormal cortical bone morphology Short hallux Cranial hyperostosis Aplasia/Hypoplasia of the middle phalanges of the hand Polycystic kidney dysplasia Pain Retrognathia Radial deviation of finger Proptosis Abdominal pain Molar tooth sign on MRI Macrocephaly Nephronophthisis Neoplasm Optic nerve dysplasia Atrioventricular canal defect 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 Everted upper lip vermilion


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