Frontal bossing, and Rigidity

Diseases related with Frontal bossing and Rigidity

In the following list you will find some of the most common rare diseases related to Frontal bossing and Rigidity that can help you solving undiagnosed cases.

Top matches:

Early-onset parkinsonism with intellectual deficit is a basal ganglia disorder characterised by parkinsonian-type symptoms (postural changes, tremor, rigidity), megalencephaly and variable intellectual deficit. Other signs are frontal bossing, persistent frontal lobe reflexes, strabismus and seizures. It has been described in three generations of one family. Transmission is X-linked, and the gene is located on chromosomal region Xq27.3-qter.

EARLY-ONSET PARKINSONISM-INTELLECTUAL DISABILITY SYNDROME Is also known as basal ganglion disorder with mental retardation|bgmr|waisman syndrome|parkinsonism, early-onset, with mental retardation|laxova-opitz syndrome|wsn

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Cognitive impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about EARLY-ONSET PARKINSONISM-INTELLECTUAL DISABILITY SYNDROME

High match DESMOSTEROLOSIS

Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about DESMOSTEROLOSIS

Miller-Dieker Syndrome (MDS) is a contiguous gene deletion syndrome of chromosome 17p13.3, characterised by classical lissencephaly (lissencephaly type 1) and distinct facial features. Additional congenital malformations can be part of the condition.

MILLER-DIEKER SYNDROME Is also known as monosomy 17p13.3|lissencephaly due to 17p13.3 deletion|mds|telomeric deletion 17p

Related symptoms:

  • Intellectual disability
  • Seizures
  • Microcephaly
  • Ataxia
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about MILLER-DIEKER SYNDROME

Other less relevant matches:

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

Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development.

X-LINKED INTELLECTUAL DISABILITY, NAJM TYPE Is also known as fgs1|keller syndrome|fg syndrome|fgs|x-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome|mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum|fg syndrome 1|micpch

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, NAJM TYPE

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Feeding difficulties
  • Delayed speech and language development
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME; HADDTS

Pilarowski-Bjornsson syndrome is an autosomal dominant neurodevelopmental disorder characterized by delayed development, intellectual disability, often with autistic features, speech apraxia, and mild dysmorphic features. Some patients may have seizures. The phenotype is somewhat variable (summary by Pilarowski et al., 2017).

PILAROWSKI-BJORNSSON SYNDROME; PILBOS Is also known as developmental delay and speech apraxia with or without seizures

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PILAROWSKI-BJORNSSON SYNDROME; PILBOS

JBTS32 is an autosomal recessive developmental disorder characterized by delayed psychomotor development, intellectual disability, dysmorphic facial features, and postaxial polydactyly. Brain imaging shows cerebellar abnormalities consistent with the molar tooth sign (MTS) (summary by De Mori et al., 2017).For discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 32; JBTS32

NDHMSR is an autosomal recessive neurodevelopmental disorder characterized by severely delayed psychomotor development, severe intellectual disability, and involuntary movements, including stereotypic movements, spasticity, and dystonia. Affected individuals are are usually unable to walk independently and have poor or absent speech. Some patients have intractable seizures (summary by Lemke et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE; NDHMSR

Sclerosteosis is a severe sclerosing bone dysplasia characterized by progressive skeletal overgrowth. Syndactyly is a variable manifestation. The disorder is rare and the majority of affected individuals have been reported in the Afrikaner population of South Africa (summary by Brunkow et al., 2001).For a discussion of genetic heterogeneity of sclerosteosis, see SOST1 (OMIM ).

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Macrocephaly
  • Gait disturbance
  • Frontal bossing


SOURCES: OMIM MENDELIAN

More info about SCLEROSTEOSIS 2; SOST2

Top 5 symptoms//phenotypes associated to Frontal bossing and Rigidity

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

Other less frequent symptoms

Patients with Frontal bossing and Rigidity. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly Hypertelorism Downslanted palpebral fissures Growth delay Motor delay Strabismus Epicanthus Cleft palate Spasticity Prominent forehead Flexion contracture Feeding difficulties Depressed nasal bridge Posteriorly rotated ears Clinodactyly Pachygyria Agenesis of corpus callosum Delayed speech and language development Hypoplasia of the corpus callosum Hydrocephalus Abnormality of the skeletal system Midface retrusion Abnormal facial shape Micrognathia Failure to thrive Megalencephaly Joint contracture of the hand Nystagmus Syndactyly Cerebral cortical atrophy Hearing impairment

Rare Symptoms - Less than 30% cases

Gait disturbance Partial agenesis of the corpus callosum Inability to walk Gait ataxia Cleft lip Relative macrocephaly Apraxia Overgrowth Lumbar hyperlordosis Absent speech Tetraparesis Osteopetrosis Abnormality of neuronal migration Cryptorchidism Gastroesophageal reflux Short stature Infantile muscular hypotonia Sacral dimple Heterotopia Single transverse palmar crease Thin vermilion border Postnatal growth retardation Camptodactyly Cognitive impairment Ataxia Polydactyly Scoliosis Inguinal hernia Abnormal heart morphology Abnormality of cardiovascular system morphology Wide nasal bridge Cataract Neoplasm Rhizomelia Lissencephaly Ventriculomegaly Telecanthus Low-set ears Dysarthria Anteverted nares Short nose Patent ductus arteriosus Clinodactyly of the 5th finger Severe short stature Retrognathia Intrauterine growth retardation Polymicrogyria Intestinal malrotation Micromelia Anal atresia Multiple epiphyseal dysplasia Hypoxemia Myelopathy Recurrent ear infections Thoracolumbar kyphosis Downturned corners of mouth Cor pulmonale Chronic myelogenous leukemia Neonatal short-limb short stature Generalized joint laxity Aggressive behavior Spinal cord compression Communicating hydrocephalus Cleft upper lip Joint laxity Dolichocephaly Intellectual disability, moderate Unsteady gait Abnormality of femur morphology Central apnea Anxiety Craniosynostosis Dysuria Sparse hair Attention deficit hyperactivity disorder Broad forehead Upper airway obstruction Severe global developmental delay Wide mouth Myelitis Neonatal hypotonia Ventricular septal defect Trident hand Limited hip extension Lumbar kyphosis in infancy Brain stem compression Prominent nose Sensorineural hearing impairment Visual impairment Myopia Optic atrophy Childhood onset short-limb short stature Small foramen magnum Iritis Cervical cord compression Hypopnea Umbilical hernia Short neck Behavioral abnormality Long philtrum Dilatation Hypospadias Constipation Cerebellar hypoplasia Hyperactivity Respiratory failure Obstructive lung disease Cervical myelopathy Spinal stenosis with reduced interpedicular distance Central sleep apnea Macrotia Triangular face Multiple joint contractures Webbed neck Intellectual disability, mild Molar tooth sign on MRI Large for gestational age Oculomotor apraxia Tall stature Cerebellar vermis hypoplasia Abnormal cerebellum morphology Postaxial polydactyly Broad eyebrow Intellectual disability, severe Dermal translucency Periorbital fullness Speech apraxia Pointed chin Developmental regression Autism Immunodeficiency Elongated superior cerebellar peduncle Dystonia Cerebellar atrophy Poor eye contact Increased intracranial pressure Small nail Nail dysplasia Dental malocclusion Facial asymmetry Facial palsy Mandibular prognathia Neurodevelopmental delay Cerebral atrophy Self-injurious behavior Severe muscular hypotonia Involuntary movements Epileptic encephalopathy Short finger Cutaneous finger syndactyly Encephalopathy Deeply set eye Facial wrinkling Fine hair Gynecomastia Impulsivity Chorioretinal coloboma Congenital contracture Pyloric stenosis Optic nerve hypoplasia Plagiocephaly Narrow palate Wide anterior fontanel Bowing of the legs Dental crowding Aganglionic megacolon Broad thumb Open mouth Choanal atresia Split hand Thick lower lip vermilion Radial deviation of finger Hyperostosis Auricular pit Delayed closure of the anterior fontanelle Postnatal macrocephaly Microtia, first degree Prominent fingertip pads Frontal upsweep of hair Abnormality of the nasopharynx Sagittal craniosynostosis Gastrointestinal dysmotility Facial hypotonia High pitched voice Skin tags Thoracic scoliosis Anal stenosis Anteriorly placed anus Abnormality of the sternum Abnormality of the elbow Broad hallux Obstructive sleep apnea Leukemia Spinal canal stenosis Generalized osteosclerosis Ambiguous genitalia, female Total anomalous pulmonary venous return Abnormality of earlobe Ambiguous genitalia, male Gingival fibromatosis Anomalous pulmonary venous return Abnormality of the nose Abnormality of cholesterol metabolism Abnormal cortical gyration Large earlobe Submucous cleft hard palate Absent septum pellucidum Aplasia/Hypoplasia of the skin Bilateral talipes equinovarus Macrogyria Alveolar ridge overgrowth Cupped ear High forehead Wide nose Flat face Paraplegia Spastic paraplegia EEG abnormality Thin upper lip vermilion Polyhydramnios Hypoplastic nasal bridge Brachycephaly Upslanted palpebral fissure Abnormality of metabolism/homeostasis Atrial septal defect Dysphagia Ptosis 2-4 toe syndactyly Metatarsus adductus Dermal atrophy Delayed eruption of teeth Bradykinesia Shuffling gait Lewy bodies Resting tremor Slurred speech Choreoathetosis Abnormality of extrapyramidal motor function Cerebral calcification Talipes equinovarus Parkinsonism Dyskinesia Poor speech Abnormality of movement Neurological speech impairment Dementia Tremor Cogwheel rigidity Hypertonia Renal hypoplasia/aplasia Ambiguous genitalia Aplasia/Hypoplasia of the corpus callosum Microretrognathia Finger clinodactyly Muscle stiffness Increased bone mineral density Status epilepticus Limb undergrowth Splenomegaly Renal agenesis Bifid uvula Talipes Toe syndactyly Arthrogryposis multiplex congenita Low-set, posteriorly rotated ears Narrow mouth Nephropathy Abnormality of the cardiovascular system Hip contracture Abnormal form of the vertebral bodies Paraparesis Clonus Short toe Recurrent urinary tract infections Abnormal lung morphology Abnormality of the metaphysis Recurrent otitis media Sleep apnea Osteoarthritis Epidermal acanthosis Otitis media Lymphoma Sleep disturbance Oral cleft Acanthosis nigricans Short long bone Joint hyperflexibility Short femoral neck Neuroblastoma Disproportionate short stature Myeloid leukemia Tibial bowing Limited elbow extension Bowel incontinence Flared metaphysis Disproportionate short-limb short stature Spondyloepiphyseal dysplasia Chronic otitis media Epiphyseal dysplasia Back pain Genu varum Abnormality of pelvic girdle bone morphology Tinnitus Confusion Scarring Narrow forehead Premature skin wrinkling Agyria Recurrent aspiration pneumonia Cavum septum pellucidum Deep palmar crease Thick upper lip vermilion Duodenal atresia Infantile spasms Pelvic kidney Progressive spastic paraplegia Prominent occiput Spastic diplegia Deep philtrum Spastic gait Omphalocele Decreased fetal movement Decerebrate rigidity Abnormality of upper lip Hyperlordosis Obesity Apnea Abnormality of the nervous system Conductive hearing impairment Arthralgia Skeletal dysplasia Weight loss Malar flattening Type I lissencephaly Brachydactyly Hyperreflexia Hypertension Anemia Pain Bitemporal hollowing Midline brain calcifications Sclerotic vertebral endplates


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