Flexion contracture, and Highly arched eyebrow

Diseases related with Flexion contracture and Highly arched eyebrow

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

Top matches:

Peroxisomal fatty acyl-CoA reductase-1 disorder is an autosomal recessive disorder characterized by onset in infancy of severely delayed psychomotor development, growth retardation with microcephaly, and seizures. Some patients may have congenital cataracts and develop spasticity later in childhood. Biochemical studies tend to show decreased plasmalogen, consistent with a peroxisomal defect. The disorder is reminiscent of rhizomelic chondrodysplasia punctata (see, e.g., RCDP1, {215100}), although the characteristic skeletal abnormalities observed in RCDP are absent (Buchert et al., 2014).

SEVERE INTELLECTUAL DISABILITY-EPILEPSY-CATARACT SYNDROME DUE TO FATTY ACYL-COA REDUCTASE 1 DEFICIENCY Is also known as severe intellectual disability-epilepsy-cataract syndrome due to peroxisomal disorder|severe intellectual disability-epilepsy-cataract syndrome due to far1 deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE INTELLECTUAL DISABILITY-EPILEPSY-CATARACT SYNDROME DUE TO FATTY ACYL-COA REDUCTASE 1 DEFICIENCY

Spastic quadriplegia-52 is an autosomal recessive neurodevelopmental 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). Some patients may have seizures (Hardies et al., 2015).

SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE; SPG52 Is also known as cerebral palsy, spastic quadriplegic, 6, formerly|cpsq6, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE; SPG52

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about BARAITSER-WINTER SYNDROME 2; BRWS2

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

Distal arthrogryposis type 5D is a rare subtype of distal arthrogryposis syndrome characterized by arthrogryposis multiplex congenita affecting the hands, feet, ankle, shoulders and/or neck, with camptodactyly of the fingers and limited knee and hip extension, associated with asymmetric ptosis and, less frequently, other ocular manifestations (e.g. ophthalmoplegia, strabismus). Affected individuals frequently have a bulbous nose, furrowed tongue, micro/retrognathia, a short neck, congenital hip dislocation, club feet, scoliosis and short stature.

DISTAL ARTHROGRYPOSIS TYPE 5D Is also known as distal arthrogryposis type 5 without ophthalmoparesis|da5d|distal arthrogryposis type 5 without ophthalmoplegia

Related symptoms:

  • Short stature
  • Scoliosis
  • Micrognathia
  • Cleft palate
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about DISTAL ARTHROGRYPOSIS TYPE 5D

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

IDDFSDA is an autosomal recessive severe multisystem disorder characterized by poor overall growth, developmental delay, early-onset seizures, intellectual disability, and dysmorphic features. There is phenotypic variability. The most severely affected patients have a neurodevelopmental disorder with microcephaly, absent speech, and inability to walk, and they require feeding tubes. Some patients have congenital heart defects or nonspecific abnormalities on brain imaging. Less severely affected individuals have mild to moderate intellectual disability with normal speech and motor development (summary by Santiago-Sim et al., 2017).

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET SEIZURES-DISTAL LIMB ANOMALIES-FACIAL DYSMORPHISM-GLOBAL DEVELOPMENTAL DELAY SYNDROME

Goldberg-Shprintzen megacolon syndrome is a multiple malformation syndrome characterized by Hirschprung megacolon with microcephaly, hypertelorism, submucous cleft palate, short stature and learning disability.

GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME Is also known as goldberg-shprintzen megacolon syndrome|goshs|megacolon-microcephaly syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME

Carpenter syndrome is a subtype of a family of genetic disorders known as acrocephalopolysyndactyly (ACPS) disorders.

CARPENTER SYNDROME Is also known as acrocephalopolysyndactyly type 2|acps2

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARPENTER SYNDROME

Lethal osteosclerotic bone dysplasia is defined by generalized osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course.

LETHAL OSTEOSCLEROTIC BONE DYSPLASIA Is also known as raine syndrome|osteosclerotic bone dysplasia, lethal

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about LETHAL OSTEOSCLEROTIC BONE DYSPLASIA

Top 5 symptoms//phenotypes associated to Flexion contracture and Highly arched eyebrow

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases

Seizures

Common Symptoms - More than 50% cases

Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases

Short neck Low-set ears Downslanted palpebral fissures Talipes equinovarus High palate Retrognathia Ptosis Hearing impairment Protruding ear Scoliosis Cleft palate Arthrogryposis multiplex congenita Brachycephaly Bulbous nose Short philtrum Wide mouth Wide nasal bridge Long philtrum Spasticity Thick vermilion border Thin upper lip vermilion Thick eyebrow Anteverted nares Feeding difficulties Neonatal hypotonia Micrognathia Camptodactyly Macrotia Ventriculomegaly Depressed nasal bridge Intellectual disability, severe Abnormality of the skeletal system

Rare Symptoms - Less than 30% cases

Apnea Pachygyria Long eyelashes Broad thumb Pointed chin Tapered finger Trigonocephaly Long palpebral fissure Hypertonia Narrow palate Muscular hypotonia Hydrocephalus Skeletal muscle atrophy Wide intermamillary distance Dysphagia Depressivity Hyperactivity Prominent nasal bridge Poor speech Hyperreflexia Sparse and thin eyebrow Motor delay Coarse facial features Sacral dimple Hypoplasia of the corpus callosum Intrauterine growth retardation Cryptorchidism Webbed neck Absent speech Autistic behavior Clinodactyly Growth delay Brachydactyly Short nose Tetraplegia Macrocephaly Finger syndactyly Atrial septal defect Spastic tetraplegia Cerebral palsy Craniosynostosis Midface retrusion Sensorineural hearing impairment Pectus excavatum Coloboma Narrow mouth Abnormality of the pinna Abnormality of the genitourinary system Telecanthus Babinski sign Autism Failure to thrive Abnormal heart morphology Oligodontia Bilateral cryptorchidism Supernumerary nipple Preaxial polydactyly Situs inversus totalis Cutis laxa External genital hypoplasia Coxa vara Dextrocardia Polydactyly Postaxial hand polydactyly Abnormality of cardiovascular system morphology Sparse eyebrow Bifid scrotum Hypoplasia of the brainstem Megalocornea Corneal erosion Corneal ulceration Epicanthus Frontal bossing Syndactyly Hernia Postaxial polydactyly Obesity Cutaneous finger syndactyly Patent ductus arteriosus Upslanted palpebral fissure Micropenis Kyphoscoliosis Umbilical hernia Pectus carinatum Toe syndactyly Genu valgum Transposition of the great arteries Macroglossia Hypoplastic nipples Natal tooth Hypoplasia of dental enamel Gingival overgrowth Wide anterior fontanel Increased bone mineral density Plagiocephaly Sleep apnea Elevated alkaline phosphatase Hypophosphatemia Hydroureter Delayed cranial suture closure Thoracic hypoplasia Mixed hearing impairment Protruding tongue Bowing of the long bones Obstructive sleep apnea Osteopetrosis Choanal stenosis Generalized osteosclerosis Gingival fibromatosis Median cleft lip and palate Long hallux Brachyturricephaly Mandibular aplasia Bilateral choanal atresia Metaphyseal sclerosis Alveolar ridge overgrowth Craniofacial disproportion Large fontanelles Choanal atresia Shawl scrotum Respiratory distress Turricephaly Abnormality of the skull Polysplenia Preaxial foot polydactyly Cloverleaf skull Oxycephaly Abnormal cornea morphology Diaphragmatic eventration Narrow naris Aplasia of the middle phalanx of the hand Abnormal reproductive system morphology Visual impairment Respiratory insufficiency Abnormality of the dentition Depressed nasal ridge Malar flattening Posteriorly rotated ears Prominent forehead Respiratory failure Proptosis Dyspnea Mandibular prognathia Hydronephrosis Micromelia Pulmonary hypoplasia Downturned corners of mouth Microdontia Cerebral calcification Progressive microcephaly Short palpebral fissure Aganglionic megacolon Tented upper lip vermilion Postnatal microcephaly Lissencephaly Retinal coloboma Muscle weakness Hypoglycemia Feeding difficulties in infancy Dolichocephaly High, narrow palate Broad nasal tip Narrow forehead Dysphonia Wide nose Spinal muscular atrophy Oral-pharyngeal dysphagia Neonatal hypoglycemia Broad eyebrow Tented philtrum Submucous cleft soft palate Pes planus Hyperlordosis Hip dislocation Ophthalmoplegia Heterotopia Oral cleft Lumbar hyperlordosis Paraplegia Cataract Cerebellar atrophy Congenital cataract Smooth philtrum Tetraparesis Rhizomelia Spastic tetraparesis Progressive spastic quadriplegia Muscular hypotonia of the trunk Spastic paraplegia Talipes Joint stiffness Prominent nose Focal-onset seizure Febrile seizures Spastic diplegia Facial hypotonia Loss of ability to walk Simple febrile seizures Microphthalmia Agenesis of corpus callosum Cleft lip Round face Exotropia Sparse scalp hair Sparse hair Arachnodactyly Long face Inability to walk Flat occiput Overlapping toe Long nose Ventricular septal defect Hypospadias Constipation Cerebellar hypoplasia Severe global developmental delay Abnormal cardiac septum morphology Synophrys Polymicrogyria Iris coloboma Small hand Everted lower lip vermilion Hypoplasia of the maxilla Specific learning disability Sloping forehead Optic disc pallor Blue sclerae Broad forehead Decreased palmar creases Elbow flexion contracture Labial hypoplasia Congenital hip dislocation Adducted thumb Pterygium Congenital contracture Rocker bottom foot Decreased muscle mass Submucous cleft hard palate Distal arthrogryposis Hypoplastic labia majora Furrowed tongue Pulmonary insufficiency Prominent nasal tip Calcaneovalgus deformity Tongue atrophy Unilateral ptosis Limited knee flexion Strabismus Delayed speech and language development Kyphosis Small for gestational age Microretrognathia Wide nasal base Hypoplastic nasal bridge


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