Brachydactyly, and Urinary incontinence

Diseases related with Brachydactyly and Urinary incontinence

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


Top matches:

Medium match OROFACIODIGITAL SYNDROME XVIII; OFD18


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

Medium match AUTOSOMAL RECESSIVE SPASTIC ATAXIA OF CHARLEVOIX-SAGUENAY


Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder characterised by early-onset cerebellar ataxia with spasticity, a pyramidal syndrome and peripheral neuropathy.

AUTOSOMAL RECESSIVE SPASTIC ATAXIA OF CHARLEVOIX-SAGUENAY Is also known as autosomal recessive spastic ataxia type 6|charlevoix-saguenay spastic ataxia|autosomal recessive spastic ataxia of charlevoix-saguenay|spax6|spastic ataxia 6, autosomal recessive|arsacs

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Ataxia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC ATAXIA OF CHARLEVOIX-SAGUENAY

Medium match X-LINKED INTELLECTUAL DISABILITY, CANTAGREL TYPE


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

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Other less relevant matches:

Medium match HAND-FOOT-GENITAL SYNDROME


Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects.

HAND-FOOT-GENITAL SYNDROME Is also known as hfgs|hand-foot-uterus syndrome|hfu

Related symptoms:

  • Strabismus
  • Brachydactyly
  • Ventricular septal defect
  • Renal insufficiency
  • Hypospadias


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about HAND-FOOT-GENITAL SYNDROME

Low match KLEEFSTRA SYNDROME 1; KLEFS1


Submicroscopic subtelomeric deletions of chromosome 9q are associated with a recognizable mental retardation syndrome (Harada et al., 2004; Iwakoshi et al., 2004; Stewart et al., 2004; Neas et al., 2005). Common features in patients with 9q subtelomeric deletion syndrome are severe mental retardation, hypotonia, brachy(micro)cephaly, epileptic seizures, flat face with hypertelorism, synophrys, anteverted nares, everted lower lip, carp mouth with macroglossia, and heart defects. Genetic Heterogeneity of Kleefstra SyndromeKLEFS2 (OMIM ) is caused by mutation in the KMT2C gene (OMIM ) on chromosome 7q36.

KLEEFSTRA SYNDROME 1; KLEFS1 Is also known as chromosome 9q34.3 deletion syndrome|9q subtelomeric deletion syndrome|9q- syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about KLEEFSTRA SYNDROME 1; KLEFS1

Low match ACHONDROPLASIA; ACH


Achondroplasia is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand (summary by Bellus et al., 1995).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: MESH OMIM MENDELIAN

More info about ACHONDROPLASIA; ACH

Low match X-LINKED SPASTIC PARAPLEGIA TYPE 16


Spastic paraplegias (SPGs) are a genetically heterogeneous group of neurologic disorders characterized by progressive weakness and spasticity of the legs. Complicated SPGs are accompanied by additional neurologic symptoms such as cerebellar ataxia, sensory loss, mental retardation, nystagmus, and optic atrophy (summary by Steinmuller et al., 1997).A locus for spastic paraplegia-16 has been mapped to Xq11.2-q23 (Steinmuller et al., 1997).For a discussion of genetic heterogeneity of X-linked spastic paraplegia, see {303350}.

X-LINKED SPASTIC PARAPLEGIA TYPE 16 Is also known as spg16

Related symptoms:

  • Intellectual disability
  • Ataxia
  • Nystagmus
  • Strabismus
  • Spasticity


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about X-LINKED SPASTIC PARAPLEGIA TYPE 16

Low match SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT; SPG9A


Autosomal dominant spastic paraplegia-9A is a neurologic disorder characterized by onset of slowly progressive spasticity mainly affecting the lower limbs. The age at onset usually ranges from adolescence to adulthood, and patients have gait difficulties, motor neuropathy, and dysarthria. Additional variable features include cerebellar signs, cataract, pes cavus, and urinary urgency (summary by Coutelier et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A (OMIM ).

SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT; SPG9A Is also known as spastic paraparesis with amyotrophy, cataracts, and gastroesophageal reflux|cataracts with motor neuronopathy, short stature, and skeletal abnormalities

Related symptoms:

  • Global developmental delay
  • Short stature
  • Nystagmus
  • Muscle weakness
  • Cataract


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT; SPG9A

Low match MUCOPOLYSACCHARIDOSIS TYPE 2, ATTENUATED FORM


Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline.

MUCOPOLYSACCHARIDOSIS TYPE 2, ATTENUATED FORM Is also known as iduronate 2-sulfatase deficiency type b|mucopolysaccharidosis type ii, attenuated form|mucopolysaccharidosis type iib|mps2b|mpsiib|hunter syndrome type b|mucopolysaccharidosis type 2b

Related symptoms:

  • Short stature
  • Sensorineural hearing impairment
  • Hepatomegaly
  • Wide nasal bridge
  • Macrocephaly


SOURCES: ORPHANET MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS TYPE 2, ATTENUATED FORM

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 Brachydactyly and Urinary incontinence

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Gastroesophageal reflux Uncommon - Between 30% and 50% cases
Babinski sign Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Brachydactyly and Urinary incontinence. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Spasticity Seizures Hyperreflexia Short distal phalanx of finger Spastic paraplegia Scoliosis Hearing impairment Bowel incontinence Motor delay Paraplegia Urinary urgency Dysarthria Clinodactyly Ventriculomegaly Nystagmus Delayed speech and language development Strabismus Abnormality of the skeletal system Microcephaly Generalized hypotonia Paraparesis Ataxia

Rare Symptoms - Less than 30% cases


Postnatal growth retardation Poor speech Single transverse palmar crease Hypsarrhythmia Autism Aggressive behavior Frontal bossing Lower limb muscle weakness Cerebral cortical atrophy Constipation Clinodactyly of the 5th finger Short nose Anteverted nares Growth delay Macrocephaly Gait disturbance Spastic paraparesis Tetraparesis Protruding tongue Stereotypy Short 5th finger Osteoarthritis Facial asymmetry Abnormal facial shape Coarse facial features Mandibular prognathia Abnormality of pelvic girdle bone morphology Obesity Hernia Midface retrusion Malar flattening Thoracolumbar kyphosis Obstructive lung disease Finger clinodactyly Recurrent urinary tract infections Vesicoureteral reflux Otitis media Chronic otitis media Micropenis Hypospadias Renal insufficiency Ventricular septal defect Sleep disturbance Intellectual disability, mild Tented upper lip vermilion Conductive hearing impairment Progressive spasticity Autistic behavior Cone-shaped epiphysis Cleft lip Prominent nasal bridge Absence seizures Hypoplasia of the corpus callosum Behavioral abnormality Pes cavus Impaired vibratory sensation Short philtrum Skeletal muscle atrophy Peripheral neuropathy Muscle weakness Abnormal cerebellum morphology Lower limb spasticity Gait ataxia Upslanted palpebral fissure EEG abnormality Drooling Short femoral neck Wide nasal bridge Limited elbow extension Disproportionate short stature Back pain Epiphyseal dysplasia Tibial bowing Myeloid leukemia Flared metaphysis High palate Ridged cranial sutures Abnormality of the Eustachian tube Spondyloepiphyseal dysplasia Neuroblastoma Abnormality of the skin Hip contracture Dysuria Recurrent ear infections Myelopathy Hypoxemia Multiple epiphyseal dysplasia Cor pulmonale Abnormality of femur morphology Central apnea Upper airway obstruction Spinal canal stenosis Communicating hydrocephalus Generalized joint laxity Osteopetrosis Megalencephaly Spinal cord compression Obstructive sleep apnea Abnormality of the elbow Small hand Genu varum Sleep apnea Tinnitus Oval face Confusion Micromelia Joint hyperflexibility Leukemia Scarring Hyperlordosis Apnea Abnormality of the nervous system Rigidity Lymphoma Arthralgia Skeletal dysplasia Weight loss Severe short stature Hydrocephalus Hypertension Depressed nasal bridge Flexion contracture Oral cleft Overgrowth Short metacarpal Short toe Disproportionate short-limb short stature Short long bone Infantile muscular hypotonia Restricted chest movement Acanthosis nigricans Short chin Nasal speech Clonus Infantile spasms Lumbar hyperlordosis Rhizomelia Abnormal lung morphology Abnormality of the metaphysis Abnormal form of the vertebral bodies Epileptic spasms Recurrent otitis media Enuresis Epidermal acanthosis Abnormality of nasopharyngeal adenoids Cervical cord compression Chronic myelogenous leukemia Multiple joint contractures Delayed skeletal maturation Vomiting Hoarse voice Widely spaced teeth Prominent supraorbital ridges Myopia Cataract Short finger Generalized amyotrophy Abnormal heart valve morphology Rhinitis Abnormality of the hallux Protuberant abdomen Papilledema Motor aphasia Abnormality of the skull Clubbing of fingers Specific learning disability Hiatus hernia Wrist flexion contracture Inguinal hernia Thickened skin Prominent nose Full cheeks Hirsutism Pectus carinatum Hepatosplenomegaly Umbilical hernia Congestive heart failure Motor polyneuropathy Short neck Hepatomegaly Sensorineural hearing impairment Dysfunction of lateral corticospinal tracts Chorioretinal dystrophy Shallow acetabular fossae Abnormal upper motor neuron morphology Carpal bone hypoplasia Functional abnormality of the gastrointestinal tract Functional abnormality of the bladder Neonatal short-limb short stature Brain stem compression Lumbar kyphosis in infancy Myelitis Spinal stenosis with reduced interpedicular distance Dermatan sulfate excretion in urine Trident hand Limited hip extension Tonsillitis Recurrent upper and lower respiratory tract infections Optic atrophy Childhood onset short-limb short stature Small foramen magnum Iritis Abnormality of the cardiovascular system Hypopnea Incisional hernia Cervical myelopathy Central sleep apnea Visual impairment Abnormality of mucopolysaccharide metabolism Low frustration tolerance Shuffling gait Mucopolysacchariduria Mood swings Flared nostrils Pain Lower limb amyotrophy Expressive language delay Sensory ataxia Thenar muscle atrophy Facial hypotonia Functional motor deficit Urinary bladder sphincter dysfunction Restlessness Aphasia Choreoathetosis Tetraplegia Hypoplasia of the maxilla Heparan sulfate excretion in urine Visual loss Anemia Broad forehead Neoplasm Vitamin E deficiency Progressive truncal ataxia Abnormality of the cerebellar peduncle Hypermyelinated retinal nerve fibers Abnormal motor evoked potentials Abnormality of the pons Parietal cortical atrophy Loss of Purkinje cells in the cerebellar vermis Impaired tactile sensation Decreased sensory nerve conduction velocity Failure to thrive Gaze-evoked horizontal nystagmus Scanning speech Decreased number of large peripheral myelinated nerve fibers Spastic ataxia Upper motor neuron dysfunction Absent Achilles reflex Demyelinating peripheral neuropathy Impaired smooth pursuit Swan neck-like deformities of the fingers Feeding difficulties Arachnoid cyst Underdeveloped nasal alae Coarse hair Postnatal microcephaly Open mouth Status epilepticus Nephrotic syndrome Narrow forehead Generalized-onset seizure Esotropia Round face Absent speech Generalized myoclonic seizures Thin vermilion border Severe global developmental delay Muscular hypotonia of the trunk Neonatal hypotonia Macrotia Hypothyroidism Hyperactivity Progressive gait ataxia Impaired vibration sensation in the lower limbs Abnormality of the musculature Median cleft lip Cerebellar atrophy Dysphagia Agenesis of incisor Small forehead Square face Accessory oral frenulum Cervical ribs Diastema Slender long bone Difficulty walking Short middle phalanx of finger Preaxial polydactyly Sandal gap Recurrent pneumonia Abnormal vertebral morphology Postaxial polydactyly Genu valgum Polydactyly Myoclonus Distal muscle weakness Cerebellar vermis atrophy Cerebellar vermis hypoplasia Progressive spastic paraplegia Impotence Decreased motor nerve conduction velocity Hammertoe Decreased nerve conduction velocity Foot dorsiflexor weakness Sensorimotor neuropathy Intention tremor Mitral valve prolapse Abnormal pyramidal sign Progressive cerebellar ataxia Distal sensory impairment Distal amyotrophy Falls Peripheral axonal neuropathy Unsteady gait Dysmetria Abnormality of the foot Long nose Poor eye contact Tracheobronchomalacia Downturned corners of mouth Hypoplasia of penis Tetralogy of Fallot Limitation of joint mobility Macroglossia Renal cyst Delayed eruption of teeth Highly arched eyebrow Everted lower lip vermilion Flat face Psychosis Pulmonic stenosis Synophrys Abnormality of the cerebral white matter Abnormal cardiac septum morphology Abnormality of the pinna Developmental regression Hydronephrosis Dyspnea Coarctation of aorta Bicuspid aortic valve Agenesis of corpus callosum Thickened helices Exaggerated cupid's bow Conotruncal defect U-Shaped upper lip vermilion Bronchomalacia Persistence of primary teeth Abnormal myelination Advanced eruption of teeth Abnormal renal morphology Self-mutilation Pyloric stenosis Pulmonary artery stenosis Tracheomalacia Natal tooth Supernumerary nipple Impulsivity Obsessive-compulsive behavior Apathy Self-injurious behavior Brachycephaly Recurrent respiratory infections Shawl scrotum Abnormality of the urinary system Bicornuate uterus Abnormality of the uterus Short 1st metacarpal Short hallux Synostosis of carpal bones Bifid scrotum Proximal placement of thumb Abnormality of the hand Abnormality of the outer ear Ureteropelvic junction obstruction Sacral dimple Abnormal dermatoglyphics Spontaneous abortion Short thumb Postaxial hand polydactyly Short foot Microtia Central hypothyroidism Delayed ossification of carpal bones Chordee Abnormal heart morphology Hypoplastic fifth toenail Arrhythmia Intellectual disability, severe Talipes equinovarus Cryptorchidism Muscular hypotonia Hypertelorism Longitudinal vaginal septum Delayed tarsal ossification Penile hypospadias Pyelonephritis Short 2nd toe Short first metatarsal Ulnar deviation of the 2nd finger Shortening of all middle phalanges of the fingers Hallux varus Pseudoepiphyses Abnormality of the urethra Uterus didelphys Small thenar eminence Enuresis nocturna



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Delayed speech and language development and Psoriasiform dermatitis, related diseases and genetic alterations Low-set ears and Umbilical hernia, related diseases and genetic alterations Spasticity and Hirsutism, related diseases and genetic alterations Nystagmus and Tetralogy of Fallot, related diseases and genetic alterations Scoliosis and Weight loss, related diseases and genetic alterations Neoplasm and Atopic dermatitis, related diseases and genetic alterations

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