Motor delay, and Bifid uvula

Diseases related with Motor delay and Bifid uvula

In the following list you will find some of the most common rare diseases related to Motor delay and Bifid uvula that can help you solving undiagnosed cases.

Top matches:

BTDD is an autosomal dominant disorder characterized by brachycephaly, trichomegaly, and developmental delay. Although it is caused by dysfunction of the ribosome, patients do not have anemia (summary by Paolini et al., 2017).

BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD Is also known as macinnes syndrome|mcins

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD

Centronuclear myopathy-5 is an autosomal recessive congenital myopathy characterized by severe neonatal hypotonia with respiratory insufficiency and difficulty feeding. Some patients die in infancy, and some develop dilated cardiomyopathy. Children show severely delayed motor development (summary by Agrawal et al., 2014).For a discussion of genetic heterogeneity of centronuclear myopathy, see CNM1 (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Micrognathia
  • Flexion contracture
  • High palate
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, CENTRONUCLEAR, 5; CNM5

Chromosome 1q43-q44 deletion syndrome is characterized by moderate to severe mental retardation, limited or no speech, and variable but characteristic facial features, including round face, prominent forehead, flat nasal bridge, hypertelorism, epicanthal folds, and low-set ears. Other features may include hypotonia, poor growth, microcephaly, agenesis of the corpus callosum, and seizures. The phenotype is variable, and not all features are observed in all patients, which may be explained in some cases by incomplete penetrance or variable expressivity (summary by Ballif et al., 2012).Patients with autosomal dominant mental retardation-22 have a phenotype similar to that in patients with chromosome 1q43-q44 deletion syndrome (de Munnik et al., 2014).

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22

Other less relevant matches:

Autosomal recessive centronuclear myopathy (AR-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.

AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY Is also known as myopathy, centronuclear, autosomal recessive|myotubular myopathy, autosomal recessive|ar-cnm

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY

Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS (see {609192}), no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection (summary by Bertoli-Avella et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of Loeys-Dietz syndrome, see LDS1 (OMIM ).

LOEYS-DIETZ SYNDROME 5; LDS5 Is also known as rienhoff syndrome|rnhf

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about LOEYS-DIETZ SYNDROME 5; LDS5

Ehlers-Danlos syndrome, progeroid type (EDS-PF) is a form of Ehlers-Danlos syndrome characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars.

EHLERS-DANLOS SYNDROME, PROGEROID TYPE Is also known as pds, defective biosynthesis of|ehlers-danlos syndrome with short stature and limb anomalies|edsp1, formerly|eds, progeroid type|xgpt deficiency|dermatan sulfate proteoglycan|proteodermatan sulfate, defective biosynthesis of|edssla|xylosylprotein 4-beta-ga

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, PROGEROID TYPE

Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly.

MARDEN-WALKER SYNDROME Is also known as mws

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about MARDEN-WALKER SYNDROME

BRWS is a rare developmental phenotype characterized by the combination of hypertelorism, broad nose with large tip and prominent root, congenital nonmyopathic ptosis, ridged metopic suture, arched eyebrows, iris or retinal coloboma, sensorineural deafness, shoulder girdle muscle bulk and progressive joint stiffness, and pachygyria with anteroposterior severity gradient, rarely lissencephaly or neuronal heterotopia. Cleft lip and palate, hallux duplex, congenital heart defects and renal tract anomalies are seen in some cases. Microcephaly may develop with time. Early muscular involvement, occasionally with congenital arthrogryposis, may be present. Intellectual disability and epilepsy are variable in severity and largely correlate with central nervous system anomalies (summary by Verloes et al., 2015). Di Donato et al. (2014) and Verloes et al. (2015) suggested that BRWS, Fryns-Aftimos syndrome, and cerebrofrontofacial syndrome represent the same clinical entity. The phenotype is highly variable (summary by Cuvertino et al., 2017). Genetic Heterogeneity of Baraitser-Winter SyndromeBaraitser-Winter syndrome-2 (BRWS2 ) is caused by heterozygous mutation in the ACTG1 gene (OMIM ) on chromosome 17q25.

BARAITSER-WINTER SYNDROME 1; BRWS1 Is also known as cerebrofrontofacial syndrome|cofls|chromosome 7p22 deletion syndrome|cerebrooculofacial lymphatic syndrome|pachygyria, mental retardation, epilepsy, and characteristic facies|mental retardation with epilepsy and characteristic facies|iris coloboma with pt

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about BARAITSER-WINTER SYNDROME 1; BRWS1

Baller-Gerold syndrome is characterized by the association of coronal craniosynostosis with radial ray anomalies (oligodactyly, aplasia or hypoplasia of the thumb, aplasia or hypoplasia of the radius).

BALLER-GEROLD SYNDROME Is also known as craniosynostosis-radial aplasia syndrome|craniosynostosis with radial defects

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about BALLER-GEROLD SYNDROME

Oculo-facio-cardio-dental syndrome (OFCD) is a very rare multiple congenital anomaly syndrome characterized by dental radiculomegaly, congenital cataract, facial dismorphism and congenital heart disease.

OCULOFACIOCARDIODENTAL SYNDROME Is also known as oculofaciocardiodental syndrome|anop2, formerly|cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome|microphthalmia, cataracts, radiculomegaly, and septal heart defects|maa2, formerly|ofcd syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about OCULOFACIOCARDIODENTAL SYNDROME

Top 5 symptoms//phenotypes associated to Motor delay and Bifid uvula

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
High palate Common - Between 50% and 80% cases
Flexion contracture Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Motor delay and Bifid uvula. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Cleft palate

Uncommon Symptoms - Between 30% and 50% cases

Scoliosis

Common Symptoms - More than 50% cases

Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases

Growth delay

Common Symptoms - More than 50% cases

Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape

Common Symptoms - More than 50% cases

Epicanthus

Uncommon Symptoms - Between 30% and 50% cases

Cryptorchidism Feeding difficulties Seizures Low-set ears Microcephaly Ptosis Hearing impairment Talipes equinovarus Retrognathia Narrow mouth Failure to thrive Agenesis of corpus callosum Muscular hypotonia Ventricular septal defect Micrognathia Short nose Abnormality of the pinna Intellectual disability, mild Brachycephaly Abnormality of cardiovascular system morphology Highly arched eyebrow Long philtrum Microphthalmia Radioulnar synostosis Prominent forehead Broad forehead Smooth philtrum Midface retrusion Proptosis Kyphoscoliosis Short neck Abnormal cardiac septum morphology Pectus carinatum Abnormal heart morphology Short palpebral fissure Pectus excavatum Arachnodactyly Skeletal muscle atrophy Arthrogryposis multiplex congenita Feeding difficulties in infancy Posteriorly rotated ears Abnormality of the sternum Long face Aortic valve stenosis Areflexia Hypoplasia of the corpus callosum Neonatal hypotonia Depressed nasal bridge Intellectual disability, severe Conductive hearing impairment Abnormality of the skeletal system Myopathy

Rare Symptoms - Less than 30% cases

Pes planus Increased number of teeth Bilateral conductive hearing impairment Inguinal hernia Hernia Cardiomyopathy Dilatation Intrauterine growth retardation Downslanted palpebral fissures Strabismus Joint hypermobility Ventriculomegaly Anteverted nares Hydrocephalus Sensorineural hearing impairment Hypospadias Hyperactivity Congenital contracture Single transverse palmar crease Blue sclerae Bruising susceptibility Tracheoesophageal fistula Short thumb Prominent nasal bridge Narrow face Pulmonic stenosis Anemia Microtia Severe short stature Abnormality of the dentition Wide nasal bridge Ulnar bowing Mitral valve prolapse Long palpebral fissure Decreased muscle mass Flat forehead Ectopia lentis Trigonocephaly Congenital ptosis Joint contracture of the hand Exotropia Thick eyebrow Micropenis Bilateral ptosis Dystonia Respiratory insufficiency Patent ductus arteriosus Renal dysplasia Ophthalmoplegia Renal agenesis Deeply set eye Myopia Telecanthus Protruding ear Kyphosis Iris coloboma Centrally nucleated skeletal muscle fibers Hydronephrosis Hip contracture Small for gestational age Coloboma High, narrow palate Submucous cleft hard palate Atrial septal defect Bowing of the long bones Abnormality of the kidney Camptodactyly Wide nose Postnatal growth retardation Axial muscle weakness Lymphoma Joint stiffness Blepharophimosis Facial palsy Dextrocardia Delayed speech and language development Thin upper lip vermilion Unilateral ptosis U-Shaped upper lip vermilion Small thenar eminence Prominent fingertip pads Abnormality of metabolism/homeostasis Zollinger-Ellison syndrome Retinal coloboma Facial edema Edema Duplication of phalanx of hallux Small posterior fossa Nystagmus Optic atrophy Frontal bossing Behavioral abnormality Thrombocytopenia Depressed nasal tip Low-set, posteriorly rotated ears Craniosynostosis Skin rash Malabsorption Facial asymmetry Anal atresia Polymicrogyria Widow's peak Heterotopia Acute lymphoblastic leukemia Everted lower lip vermilion Aplasia/Hypoplasia involving the skeletal musculature Pointed chin Fixed facial expression Abnormal anatomic location of the heart Thick vermilion border Hoarse voice Webbed neck Spontaneous abortion High myopia Low anterior hairline Low posterior hairline Hypertrichosis Postnatal microcephaly Pachygyria Oral cleft Lissencephaly Inverted nipples Ectropion Esophageal atresia Protruding tongue Chorioretinal coloboma Cerebral cortical atrophy Overfolded helix Inferior vermis hypoplasia Mandibular prognathia Cleft upper lip Coarse facial features Cleft lip Redundant skin Wide mouth Abnormality of the outer ear Bicuspid aortic valve Leukemia Weight loss Hand oligodactyly Vesicoureteral reflux Genu valgum Abnormal palate morphology Spastic paraparesis Decreased body weight Dental malocclusion Intestinal malrotation Broad nasal tip Microcornea Delayed eruption of teeth Retinal detachment Toe syndactyly Cubitus valgus Congenital cataract Umbilical hernia Hypothyroidism Glaucoma Clinodactyly of the 5th finger Visual loss Syndactyly Vomiting Cataract Unilateral radial aplasia Oligodontia Heart murmur Anomalous splenoportal venous system Anteverted ears Flexion contracture of the 2nd toe Flexion contracture of the 4th toe Multiple unerupted teeth Fused teeth Transverse vaginal septum Asymmetry of the ears Septate vagina Phthisis bulbi Remnants of the hyaloid vascular system Single median maxillary incisor Persistence of primary teeth Hammertoe Hand clenching Peripheral pulmonary artery stenosis Bifid nasal tip Asplenia Misalignment of teeth Double outlet right ventricle Broad palm Adrenal insufficiency 2-3 toe syndactyly Anophthalmia Aphalangy of the hands Midface capillary hemangioma Prominent nose Absent thumb Carpal synostosis Abnormality of the ureter Aplasia/Hypoplasia of the radius Fibular hypoplasia Absent radius Oligodactyly Short humerus Aplasia/Hypoplasia of the thumb Anteriorly placed anus Narrow nasal bridge Hallux valgus Coronal craniosynostosis Hypoplasia of the ulna Failure to thrive in infancy Hypoplasia of the radius Abnormality of the metacarpal bones Spina bifida occulta Abnormal vertebral morphology Large fontanelles Pancytopenia Hypotelorism Underdeveloped nasal alae Shallow orbits Chromosome breakage Carpal bone aplasia Aplasia/Hypoplasia of the patella Persistent cloaca Limited shoulder movement Perineal fistula Bicoronal synostosis Aplasia of metacarpal bones Bilateral radial aplasia Urogenital fistula Abnormality of the carpal bones Metopic synostosis Brachyturricephaly Lambdoidal craniosynostosis Choanal stenosis Limited elbow movement Patellar hypoplasia Anterior plagiocephaly Oxycephaly Abnormal localization of kidney Sagittal craniosynostosis Rib fusion Poikiloderma Rectovaginal fistula Osteosarcoma Abnormality of the penis Soft, doughy skin Abnormality of the cerebellar vermis EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Aortic regurgitation Tall stature Mitral regurgitation Osteoarthritis Overgrowth Syncope Dolichocephaly Hyporeflexia Type 1 muscle fiber predominance Patent foramen ovale Facial diplegia Difficulty running Abnormal heart valve morphology Exertional dyspnea Long fingers Difficulty climbing stairs Generalized amyotrophy Ophthalmoparesis Atrioventricular block Cerebral hemorrhage Dysphonia Ascending aortic dissection Osteopenia Osteoporosis Alopecia Macrocephaly Increased arm span Cervical spine instability Bilateral coxa valga Arterial dissection Arterial tortuosity Reduced subcutaneous adipose tissue Graves disease Cleft soft palate Spondylolisthesis Broad face Aortic dissection Hiatus hernia Soft skin Aortic root aneurysm Celiac disease Gowers sign EMG: myopathic abnormalities Abnormality of the nervous system Muscular hypotonia of the trunk Microretrognathia Absence seizures Wide intermamillary distance Round face Downturned corners of mouth Thin vermilion border Neurological speech impairment Short philtrum Absent speech Long nose Spasticity Severe muscular hypotonia Dilated cardiomyopathy Elevated serum creatine phosphokinase Flat occiput Brittle hair Long eyelashes Autistic behavior Autism Widely spaced teeth Partial agenesis of the corpus callosum External ophthalmoplegia Proximal muscle weakness Respiratory insufficiency due to muscle weakness Scapular winging Progressive muscle weakness Left ventricular hypertrophy Waddling gait Generalized muscle weakness Distal muscle weakness Hyperlordosis Difficulty walking Prominent metopic ridge Dyspnea Pes cavus Congestive heart failure Dysarthria Cognitive impairment Muscle weakness Long upper lip Prominent nasal tip Bruxism Skeletal dysplasia Joint laxity Limb joint contracture Aggressive behavior Specific learning disability Dandy-Walker malformation Pulmonary hypoplasia Talipes Muscular dystrophy Attention deficit hyperactivity disorder Camptodactyly of finger Respiratory tract infection Polyhydramnios Interphalangeal joint contracture of finger Cerebellar hypoplasia Palmoplantar cutis gyrata Abnormality of primary teeth Facial wrinkling Phalangeal dislocation Testicular torsion Slender toe Large joint dislocations Peripheral demyelination Renal hypoplasia Advanced ossification of carpal bones Metatarsus adductus Epispadias Primitive reflex Abnormality of the upper urinary tract Colpocephaly Distal arthrogryposis Restlessness Absent septum pellucidum Hydroureter Mask-like facies Abnormal form of the vertebral bodies Hypoplasia of the brainstem Myotonia Pyloric stenosis Abnormality of the urinary system Renal hypoplasia/aplasia Multicystic kidney dysplasia Situs inversus totalis Wide anterior fontanel Abnormality of the face Prominent scalp veins Absent earlobe Scarring Sparse scalp hair Cutis laxa Sparse eyelashes Accelerated skeletal maturation Joint dislocation Coxa valga Elbow flexion contracture Sparse and thin eyebrow Thin skin Fine hair Lipodystrophy Cutaneous photosensitivity Congenital diaphragmatic hernia Nevus Triangular face Flat face Abnormality of skin pigmentation Joint hyperflexibility Narrow chest Hypermetropia Hyperextensible skin Sparse eyebrow Talipes equinovalgus Mild global developmental delay Forearm undergrowth Dermal translucency Long toe Poor wound healing Small face Generalized osteoporosis Varicose veins Progeroid facial appearance Periodontitis Elbow dislocation Atypical scarring of skin Gingivitis Genu recurvatum Short clavicles Proportionate short stature Curly hair Atrophic scars Bowing of the legs Bilateral cryptorchidism Laterally curved eyebrow


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