Flexion contracture, and Thick eyebrow

Diseases related with Flexion contracture and Thick eyebrow

In the following list you will find some of the most common rare diseases related to Flexion contracture and Thick eyebrow that can help you solving undiagnosed cases.

Top matches:

Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS; see this term) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin.

WAARDENBURG SYNDROME TYPE 3 Is also known as klein-waardenburg syndrome|waardenburg syndrome with limb anomalies|waardenburg syndrome type iii|ws3

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Downslanted palpebral fissures
  • Atrial septal defect


SOURCES: ORPHANET MENDELIAN

More info about WAARDENBURG SYNDROME TYPE 3

ALKALINE CERAMIDASE 3 DEFICIENCY Is also known as leukodystrophy due to alkaline ceramidase 3 deficiency|acer3-related early childhood-onset progressive leukodystrophy

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALKALINE CERAMIDASE 3 DEFICIENCY

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5; MRT5

Other less relevant matches:

Intellectual disability, Birk-Barel type is a rare, genetic, syndromic intellectual disability characterized by congenital central hypotonia, developmental delay, moderate to severe intellectual disability and subtle dysmorphic features which evolve over time (dolichocephaly, myopathic facies, ptosis, short and broad philtrum, tented upper lip vermillion, palatal anomalies, mild micro- and/or retrognathia). Patients present reduced facial movements, lethargy, weak cry, transient neonatal hypoglycemia, severe feeding difficulties and failure to thrive. Dysphagia, particularly of solid food, asthenic body build, joint contractures and scoliosis are additional features.

INTELLECTUAL DISABILITY, BIRK-BAREL TYPE Is also known as intellectual disability-hypotonia-facial dysmorphism syndrome|birk-barel mental retardation dysmorphism syndrome|mental retardation with hypotonia and facial dysmorphism

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY, BIRK-BAREL TYPE

Laurence-Moon syndrome has a clinical presentation similar to that of Oliver-McFarlane syndrome (OMIM ), including chorioretinopathy and pituitary dysfunction, but with childhood onset of ataxia, peripheral neuropathy, and spastic paraplegia and without trichomegaly. Historically, Laurence-Moon syndrome has been associated with Bardet-Biedl syndrome (see BBS, {209900}) (summary by Hufnagel et al., 2015).Oliver-McFarlane syndrome is an allelic disorder.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Growth delay
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about LAURENCE-MOON SYNDROME; LNMS

CATARACT-GROWTH HORMONE DEFICIENCY-SENSORY NEUROPATHY-SENSORINEURAL HEARING LOSS-SKELETAL DYSPLASIA SYNDROME Is also known as cagsss

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about CATARACT-GROWTH HORMONE DEFICIENCY-SENSORY NEUROPATHY-SENSORINEURAL HEARING LOSS-SKELETAL DYSPLASIA SYNDROME

Autism spectrum disorder due to AUTS2 deficiency is a rare genetic syndromic intellectual disability characterized by global developmental delay and borderline to severe intellectual disability, autism spectrum disorder with obsessive behavior, stereotypies, hyperactivity but frequently friendly and affable personality, feeding difficulties, short stature, muscular hypotonia, microcephaly, characteristic dysmorphic features (hypertelorism, high arched eyebrows, ptosis, deep and/or broad nasal bridge, broad/prominent nasal tip, short and/or upturned philtrum, narrow mouth, and micrognathia), and skeletal anomalies (kyphosis and/or scoliosis, arthrogryposis, slender habitus and extremities). Other clinical features may include hernias, congenital heart defects, cryptorchidism and seizures.

AUTISM SPECTRUM DISORDER DUE TO AUTS2 DEFICIENCY Is also known as asd due to auts2 deficiency|auts2 syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTISM SPECTRUM DISORDER DUE TO AUTS2 DEFICIENCY

The mucopolysaccharidoses are a family of lysosomal storage diseases caused by deficiencies of enzymes required for the catabolism of glycosaminoglycans. The defects result in accumulation of excessive intralysosomal glycosoaminoglycans (mucopolysaccharides) in various tissues, causing distended lysosomes to accumulate in the cell and interfere with cell function. Multiple types have been described (Mok et al., 2003).

MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D Is also known as sanfilippo syndrome d|mps iiid|n-acetylglucosamine-6-sulfatase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D

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

Spondyloepimetaphyseal dysplasia, Bieganski type is a rare primary bone dysplasia disorder characterized by infantile-onset, progressive, multiple skeletal deformities in association with slowly progressive central and peripheral neurodegeneration. Patients present short stature, coarse facies, psychomotor regression and cognitive impairment. Imaging shows abnormally-shaped vertebral bodies, small, flat epiphyses, and widened metaphyses, as well as cerebral and cerebellar atrophy and progressive axonal-hypomyelinating neuropathy.

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, BIEGANSKI TYPE Is also known as semd, x-linked, with mental deterioration

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hypertelorism
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA, BIEGANSKI TYPE

Top 5 symptoms//phenotypes associated to Flexion contracture and Thick eyebrow

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Flexion contracture and Thick eyebrow. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly Low-set ears Strabismus Delayed speech and language development Hyperreflexia Dysarthria Intellectual disability, severe Short philtrum Coarse facial features Hearing impairment Peripheral neuropathy Spasticity Hypertelorism Dysphagia Poor speech Nystagmus Depressed nasal bridge Hyperactivity

Rare Symptoms - Less than 30% cases

Abnormal facial shape Feeding difficulties in infancy Intellectual disability, progressive Broad nasal tip Highly arched eyebrow Drooling Scoliosis Small for gestational age Long face Synophrys Prominent forehead Narrow face Narrow mouth Abnormality of the skeletal system Skeletal muscle atrophy Ataxia Feeding difficulties High palate Growth delay Hypertonia Wide mouth Developmental regression Short neck Autism Absent speech Macrocephaly Tented upper lip vermilion Abnormality of the face Spastic paraplegia Hypoplasia of the corpus callosum Dystonia Blepharophimosis Arthrogryposis multiplex congenita Muscular hypotonia of the trunk Joint stiffness Cerebral atrophy Downslanted palpebral fissures Sleep disturbance Telecanthus Thick lower lip vermilion Atrial septal defect Smooth philtrum Optic disc pallor Prominent nose Abnormality of the foot Epileptic encephalopathy Anteverted nares Mandibular prognathia Gastroesophageal reflux Macrotia Deeply set eye Urinary incontinence Abnormality of eye movement Frontal bossing Abnormality of the eye Severe global developmental delay Ophthalmoplegia Unsteady gait Narrow chest Joint hyperflexibility Chronic diarrhea Splenomegaly Diarrhea Difficulty walking Hirsutism Aggressive behavior Progressive hearing impairment Recurrent upper respiratory tract infections Generalized-onset seizure Coarse hair Growth abnormality Dysostosis multiplex Asymmetric septal hypertrophy Heparan sulfate excretion in urine Thickened ribs Behavioral abnormality Ovoid thoracolumbar vertebrae Cellular metachromasia Pain Ventriculomegaly Cerebellar atrophy Intellectual disability, mild Pectus excavatum Encephalopathy Hypertrichosis Cerebral cortical atrophy Gait ataxia Neuronal loss in central nervous system Dysphasia Intellectual disability, profound Hypoplasia of the odontoid process Delayed skeletal maturation Platyspondyly Delayed myelination Low anterior hairline Wormian bones Coxa vara Metaphyseal widening Short femoral neck Short finger Broad palm Thin ribs Broad foot Malar flattening Thoracic kyphosis Spondyloepimetaphyseal dysplasia Delayed CNS myelination Flared iliac wings Small epiphyses Flattened epiphysis Subcortical cerebral atrophy Prominent sternum Anterior rib cupping Metaphyseal cupping of metacarpals Widened subarachnoid space Cone-shaped capital femoral epiphysis Midface retrusion Brachydactyly Open mouth Abnormality of the thorax Involuntary movements Decreased body weight Postnatal microcephaly Stereotypy Clonus Truncal ataxia Aplasia/Hypoplasia of the corpus callosum Infantile muscular hypotonia Mutism Hyperkinesis Adducted thumb Cachexia Aplasia/Hypoplasia of the cerebellum Loss of ability to walk in first decade Decreased muscle mass Bowel incontinence Decreased palmar creases Long nose Slender finger Atrophy/Degeneration affecting the brainstem Dyslexia Abnormality of the nose Happy demeanor Inappropriate laughter Conspicuously happy disposition Photosensitive tonic-clonic seizures Hepatomegaly Genu valgum Prominent nasal tip Depressivity Broad-based gait Progressive microcephaly Short chin Brisk reflexes Thick upper lip vermilion Achilles tendon contracture Micrognathia Muscle weakness Muscular hypotonia Cleft palate Babinski sign Eczema Retrognathia Hypoglycemia Neonatal hypotonia Dolichocephaly High, narrow palate Narrow forehead Sacral dimple Dysphonia Spinal muscular atrophy Oral-pharyngeal dysphagia Neonatal hypoglycemia Hypotelorism Esotropia Tented philtrum Sloping forehead Camptodactyly of finger Narrow nasal bridge Cutaneous finger syndactyly Synostosis of carpal bones Tracheomalacia Acrocyanosis Abnormality of finger White hair Abnormality of the upper limb Atelectasis Areflexia Leukodystrophy Underdeveloped nasal alae Relative macrocephaly Developmental stagnation Neurogenic bladder Wide nasal bridge Myopathy Abnormality of the dentition Elevated serum creatine phosphokinase Pes cavus Postnatal growth retardation Sparse hair Prominent nasal bridge Broad eyebrow Submucous cleft soft palate Wide nasal base Thoracic kyphoscoliosis Growth hormone deficiency Hip dysplasia Bilateral sensorineural hearing impairment Sensorimotor neuropathy Congenital hip dislocation Spondyloepiphyseal dysplasia Progressive sensorineural hearing impairment Spinal canal stenosis Achalasia Fasting hypoglycemia Prelingual sensorineural hearing impairment Multiple skeletal anomalies Sensory neuropathy Cervical spinal canal stenosis Periarticular subcutaneous nodules Failure to thrive Ptosis Kyphosis Brachycephaly Autistic behavior Thick vermilion border Short palpebral fissure Microretrognathia Cerebral palsy Sensory impairment Distal sensory impairment Alopecia Abnormality of the hand Rod-cone dystrophy Hypogonadism Polydactyly Micropenis Retinopathy Paraplegia Retinal degeneration Short metacarpal Pigmentary retinopathy Long eyelashes Scrotal hypoplasia External genital hypoplasia Congenital cataract Hypopituitarism Short 1st metacarpal Choroideremia Sensorineural hearing impairment Cataract Motor delay Long philtrum Hyporeflexia Osteopenia Skeletal dysplasia Hip dislocation Peg-like central prominence of distal tibial metaphyses


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