Abnormal facial shape, and Urinary incontinence

Diseases related with Abnormal facial shape and Urinary incontinence

In the following list you will find some of the most common rare diseases related to Abnormal facial shape and Urinary incontinence that can help you solving undiagnosed cases.

Top matches:

Focal epilepsy with speech disorder is a childhood-onset seizure disorder with a highly variable phenotype. Seizures typically occur in the temporal lobe, or rolandic brain region, which affects speech and language, and electroencephalogram (EEG) characteristically shows centrotemporal spike-wave discharges. EEG abnormalities often occur during sleep and may manifest as continuous spike-wave discharges during slow-wave sleep (CSWS or CSWSS). FESD represents an electroclinical spectrum that ranges from severe early-onset seizures associated with delayed psychomotor development, persistent speech difficulties, and mental retardation to a more benign entity characterized by childhood onset of mild or asymptomatic seizures associated with transient speech difficulties followed by remission of seizures in adolescence and normal psychomotor development. There is incomplete penetrance and intrafamilial variability, even among family members who carry the same GRIN2A mutation (summary by Lesca et al., 2013; Lemke et al., 2013; Carvill et al., 2013).The disorder represented here encompasses several clinical entities, including Landau-Kleffner syndrome (LKS), epileptic encephalopathy with continuous spike and wave during slow-wave sleep (ECSWS; CSWSS), autosomal dominant rolandic epilepsy, mental retardation, and speech dyspraxia (ADRESD; RESDAD), and benign epilepsy with centrotemporal spikes (BECTS; see {117100}). LKS is classically described as a childhood-onset variant of epileptic aphasia. It is associated with EEG abnormalities occurring in the temporal lobe of the language-dominant hemisphere, even in the absence of overt clinical seizures. LKS is sometimes referred to as an 'acquired aphasia' because most affected children show normal psychomotor development until the onset of seizures, usually between 3 and 7 years, although some may have prior delayed development. A hallmark of the disorder is severe impairment in auditory language comprehension and speech. Some patients may also have persistent intellectual disability or behavioral abnormalities reminiscent of autism or attention deficit-hyperactivity disorder. EEG abnormalities typically include centrotemporal spikes suggestive of rolandic epilepsy or continuous spike and waves during slow-wave sleep. The presence of CSWS is associated with more widespread behavioral and cognitive regression than LKS, although the 2 disorders may be considered part of a spectrum. There is controversy about the precise definition of LKS and its relationship to CSWS that stems mainly from the phenotypic heterogeneity of the disorder (summary by Stefanatos, 2011).

EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD Is also known as aphasia, acquired, with epilepsy

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD

The urofacial syndrome (UFS) is a rare autosomal recessive disease characterized by a severe and early-onset form of dysfunctional urinary voiding. Affected individuals usually present prenatally or in early childhood with grossly distorted renal tracts, comprising dysmorphic bladders and dilatation of the ureter and renal pelvis. They are at high risk of vesicoureteral reflux (VUR), with ascending bacterial infection leading to kidney damage, hypertension, and renal failure. One-third of UFS children also experience constipation or fecal soiling, suggesting that the pathophysiology of the syndrome encompasses a broader functional impairment of elimination. In addition, affected individuals have a characteristic facial grimace when trying to smile (summary by Daly et al., 2010). Genetic Heterogeneity of Urofacial SyndromeUrofacial syndrome-2 (UFS2 ) is caused by mutation in the LRIG2 gene (OMIM ) on chromosome 1p13.

UROFACIAL SYNDROME 1; UFS1 Is also known as facial palsy, partial, with urinary abnormalities|ochoa syndrome|hydronephrosis with peculiar facial expression|urofacial syndrome|inverted smile and occult neuropathic bladder|ufs

Related symptoms:

  • Abnormal facial shape
  • Pain
  • Cryptorchidism
  • Hypertension
  • Fever


SOURCES: OMIM MENDELIAN

More info about UROFACIAL SYNDROME 1; UFS1

Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia.

SPINOCEREBELLAR ATAXIA TYPE 13 Is also known as sca13

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 13

Other less relevant matches:

Autosomal recessive SPG9B is a neurologic disorder characterized by early-onset complex spastic paraplegia. Affected individuals had delayed psychomotor development, intellectual disability, and severe motor impairment. More variable features include dysmorphic facial features, tremor, and urinary incontinence (summary by Coutelier et al., 2015).For a discussion of genetic heterogeneity of autosomal recessive SPG, see SPG5A (OMIM ).

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 9B Is also known as ar-spg9b

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 9B

Orofaciodigital syndrome-18 is characterized by short stature, brachymesophalangy, pre- and postaxial polysyndactyly, and stocky femoral necks, as well as oral anomalies and dysmorphic facial features (Thevenon et al., 2016).

OROFACIODIGITAL SYNDROME XVIII; OFD18 Is also known as ofds xviii|oral-facial-digital syndrome, type xviii

Related symptoms:

  • Short stature
  • Abnormal facial shape
  • Brachydactyly
  • Wide nasal bridge
  • Upslanted palpebral fissure


SOURCES: OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME XVIII; OFD18

Christianson syndrome is a very rare form of syndromic intellectual deficit characterized by microcephaly, severe developmental delay or regression, hypotonia, abnormal movements, and early-onset seizures.

CHRISTIANSON SYNDROME Is also known as x-linked angelman-like syndrome|x-linked intellectual disability, south african type|mental retardation, microcephaly, epilepsy, and ataxia syndrome|x-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy synd

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CHRISTIANSON SYNDROME

X-linked Mental retardation Cantagrel type is characterised by marked neonatal hypotonia, progressive quadriparesia, severely delayed developmental milestones (walking at 3 years of age), gastroesophageal reflux, stereotypic movements of the hands, esotropia and infantile autism.

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, CANTAGREL TYPE

Sandhoff disease is a progressive neurodegenerative disorder characterized by an accumulation of GM2 gangliosides, particularly in neurons, and is clinically indistinguishable from Tay-Sachs disease (OMIM ).

SANDHOFF DISEASE, INFANTILE FORM Is also known as infantile gm2 gangliosidosis 0 variant|hexosaminidases a and b deficiency|hexosaminidases a and b deficiency, infantile form|gm2-gangliosidosis, type ii

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about SANDHOFF DISEASE, INFANTILE FORM

Allan-Herndon-Dudley syndrome (AHDS) is an X-linked intellectual disability syndrome with neuromuscular involvement characterized by infantile hypotonia, muscular hypoplasia, spastic paraparesis with dystonic/athetoic movements, and severe cognitive deficiency.

ALLAN-HERNDON-DUDLEY SYNDROME Is also known as x-linked intellectual disability-hypotonia syndrome|t3 resistance|allan-herndon syndrome|triiodothyronine resistance|monocarboxylate transporter 8 deficiency|mct8 deficiency|mental retardation and muscular atrophy|mental retardation, x-linked, with hypoto

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ALLAN-HERNDON-DUDLEY SYNDROME

1p31p32 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 1, characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures.

1P31P32 MICRODELETION SYNDROME Is also known as monosomy 1p31p32|del(1)(p31p32)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about 1P31P32 MICRODELETION SYNDROME

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Urinary incontinence

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Microcephaly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Abnormal facial shape and Urinary incontinence. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Ataxia Dysarthria Hyperreflexia Drooling Cerebral cortical atrophy Skeletal muscle atrophy Motor delay Short stature Absent speech Delayed speech and language development Babinski sign Muscle weakness Open mouth Intellectual disability, severe Severe global developmental delay Upslanted palpebral fissure Spasticity Generalized-onset seizure Growth delay Macrotia Gait ataxia Autism Ventriculomegaly Hyperactivity Nystagmus

Rare Symptoms - Less than 30% cases

Tetraplegia Polydactyly Short philtrum Brachydactyly Muscular hypotonia Hypothyroidism Developmental regression Paraplegia Spastic paraplegia Neonatal hypotonia Gait disturbance Hyperactive deep tendon reflexes Intellectual disability, mild Cerebellar atrophy Dysphagia Encephalopathy Prominent nasal bridge Dystonia Strabismus Narrow face Short nose Hypoplasia of the corpus callosum Anteverted nares Feeding difficulties Failure to thrive Thin vermilion border Narrow forehead Long nose Bowel incontinence Aplasia/Hypoplasia of the corpus callosum Intellectual disability, progressive Clonus Flexion contracture Stereotypy Postnatal microcephaly Involuntary movements Macrocephaly Long face Poor speech Cognitive impairment Abnormality of the foot Feeding difficulties in infancy Gastroesophageal reflux Pectus excavatum Hearing impairment Unsteady gait Dysphasia Urinary retention Hypertension Vesicoureteral reflux Epileptic encephalopathy Dilatation Constipation Status epilepticus EEG abnormality Pain Cryptorchidism Hydronephrosis Progressive cerebellar ataxia Generalized myoclonic seizures Polymicrogyria Aphasia Attention deficit hyperactivity disorder Autistic behavior Hyperhidrosis Hepatosplenomegaly Abnormality of the urinary system Short chin Respiratory tract infection Sparse eyebrow Overfolded helix Paralysis Coarse facial features Pigmentary retinopathy Neurodegeneration Renal hypoplasia Dementia Macroglossia Cardiomegaly Psychosis Progressive neurologic deterioration Chronic diarrhea Hypohidrosis Fasciculations Hemiplegia Emotional lability Impotence Obsessive-compulsive behavior Rotary nystagmus Cutis marmorata Absence seizures Muscular hypotonia of the trunk Postnatal growth retardation Ureterocele Single transverse palmar crease Round face Underdeveloped nasal alae Esotropia Nephrotic syndrome Hypsarrhythmia Tetraparesis Metopic synostosis Broad face Finger clinodactyly Tented upper lip vermilion Recurrent respiratory infections Coarse hair Abnormality of the musculature Poor eye contact Protruding tongue Shawl scrotum Arachnoid cyst Central hypothyroidism Narrow nose Arnold-Chiari type I malformation Syringomyelia Peripheral neuropathy Hepatomegaly Absent septum pellucidum Blindness Orthostatic hypotension Episodic abdominal pain Hypoplasia of the musculature Leukodystrophy Frontal bossing CNS hypomyelination Poor head control Type I diabetes mellitus Muscle stiffness Bilateral single transverse palmar creases Abnormality of the skeletal system Myopathic facies Hydrocephalus Choreoathetosis Hypertonia Craniofacial asymmetry Interphalangeal joint contracture of finger Hernia Athetosis Hallux valgus Agenesis of corpus callosum Low-set ears Increased thyroid-stimulating hormone level Prominent antihelix Abnormal conjugate eye movement Stahl ear Underfolded superior helices Delayed CNS myelination High palate Generalized amyotrophy Downslanted palpebral fissures Abnormality of the neck Macroorchidism Hypoplasia of the zygomatic bone Central hypotonia Biparietal narrowing Inguinal hernia Prominent forehead Megalencephaly Facial asymmetry Ptosis Scoliosis Impaired thermal sensitivity Retinopathy Abnormality of glycosphingolipid metabolism Broad forehead Cherry red spot of the macula Hyporeflexia Hip dysplasia Overgrowth Progressive psychomotor deterioration Upper motor neuron dysfunction Motor deterioration Supranuclear gaze palsy Malar flattening Proptosis Spastic tetraplegia Generalized muscle weakness Narrow mouth Cerebral calcification Increased serum lactate Jaundice Thin upper lip vermilion Craniosynostosis Inability to walk Pes planus Abnormality of movement Camptodactyly of finger Joint stiffness Protruding ear Abnormality of the pinna Irritability Abnormality of the nervous system Intraventricular hemorrhage Abnormality of eye movement Aggressive behavior Postural instability Neurogenic bladder Pyelonephritis Facial grimacing Urethral stenosis Mild proteinuria Enuresis nocturna Urethral obstruction Urethral valve Encopresis Abnormal facial expression Nocturnal lagophthalmos Optic atrophy Myoclonus Difficulty walking Bradykinesia Enuresis Optic disc pallor Clumsiness Limb ataxia Torticollis Urinary urgency Difficulty running Titubation Impaired distal vibration sensation Jerky ocular pursuit movements Upgaze palsy Impaired visuospatial constructive cognition Cataract Tremor Kyphoscoliosis Wolff-Parkinson-White syndrome Dysuria Limb muscle weakness EEG with centrotemporal focal spike waves Behavioral abnormality Intellectual disability, moderate Neurological speech impairment Focal-onset seizure Febrile seizures Apraxia Hemiparesis Dysdiadochokinesis Language impairment Epileptic spasms Speech apraxia Perisylvian polymicrogyria Agnosia Oromotor apraxia Continuous spike and waves during slow sleep Keratoconjunctivitis sicca Fever Renal insufficiency Proteinuria Stage 5 chronic kidney disease Nephropathy Hematuria Sepsis Recurrent urinary tract infections Polydipsia Clubbing Keratitis Polyuria Hydroureter Acute kidney injury Abnormality of the cerebral white matter Spastic gait Clinodactyly of the 5th finger Hyperkinesis Deeply set eye Abnormality of the eye Arthrogryposis multiplex congenita Ophthalmoplegia Narrow chest Joint hyperflexibility Thick eyebrow Sleep disturbance Neuronal loss in central nervous system Intellectual disability, profound Decreased body weight Truncal ataxia Infantile muscular hypotonia Mutism Adducted thumb Agenesis of incisor Cachexia Abnormality of the thorax Aplasia/Hypoplasia of the cerebellum Decreased muscle mass Slender finger Atrophy/Degeneration affecting the brainstem Dyslexia Abnormality of the nose Happy demeanor Inappropriate laughter Conspicuously happy disposition Photosensitive tonic-clonic seizures Loss of ability to walk in first decade Clinodactyly Mandibular prognathia Small forehead Foot dorsiflexor weakness Impaired continence Postural tremor Impaired vibratory sensation Toe walking Lower limb hyperreflexia Abnormality of the periventricular white matter Loss of speech Mild microcephaly Corpus callosum atrophy Absent Achilles reflex Primitive reflex Pseudobulbar paralysis Pollakisuria Hyperreflexia in upper limbs Impaired vibration sensation at ankles Wide nasal bridge Square face Short middle phalanx of finger Accessory oral frenulum Cervical ribs Diastema Median cleft lip Slender long bone Short femoral neck Preaxial polydactyly Cleft lip Sandal gap Recurrent pneumonia Abnormal vertebral morphology Postaxial polydactyly Short distal phalanx of finger Genu valgum Partial absence of the septum pellucidum


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Intellectual disability, severe and Intestinal malrotation, related diseases and genetic alterations Hydrocephalus and Joint hypermobility, related diseases and genetic alterations Skeletal muscle atrophy and Paresthesia, related diseases and genetic alterations Pain and Omphalocele, related diseases and genetic alterations Peripheral neuropathy and Distal sensory impairment, related diseases and genetic alterations Hearing impairment and Epistaxis, related diseases and genetic alterations