Frontal bossing, and Unsteady gait

Diseases related with Frontal bossing and Unsteady gait

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

Top matches:

Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis (see this term) characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease.

CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 4 Is also known as 2-methylacyl-coa racemase deficiency|amacr deficiency|basd4|alpha-methyl-acyl-coa racemase deficiency|liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Ataxia
  • Cataract
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 4

Neurodegeneration with brain iron accumulation-2A is an autosomal recessive neurodegenerative disease characterized by onset in the first 2 years of life; it is also referred to as infantile neuroaxonal dystrophy (INAD). Pathologic findings include axonal swelling and spheroid bodies in the central nervous system (review by Gregory et al., 2009).

NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A; NBIA2A Is also known as inad|neurodegeneration, pla2g6-associated|neuroaxonal dystrophy, infantile|seitelberger disease|inad1|plan

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A; NBIA2A

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

Other less relevant matches:

Rubinstein-Taybi syndrome is a multiple congenital anomaly syndrome characterized by mental retardation, postnatal growth deficiency, microcephaly, broad thumbs and halluces, and dysmorphic facial features. The facial appearance is striking, with highly arched eyebrows, long eyelashes, downslanting palpebral fissures, broad nasal bridge, beaked nose with the nasal septum, highly arched palate, mild micrognathia, and characteristic grimacing or abnormal smile. Affected individuals also have an increased risk of tumor formation (Rubinstein and Taybi, 1963; review by Hennekam, 2006).Floating-Harbor syndrome (OMIM ), which shows phenotypic overlap with Rubinstein-Taybi syndrome, is caused by mutation in the SRCAP gene (OMIM ), a coactivator for CREBBP. Genetic Heterogeneity of Rubinstein-Taybi SyndromeRubinstein-Taybi syndrome-1 (RSTS1) constitutes about 50 to 70% of patients with the disorder. Rubinstein-Taybi syndrome-2 (RSTS2 ) comprises about 3% of patients and is primarily due to de novo heterozygous mutation in the EP300 gene (OMIM ) on chromosome 22q13 (Bartsch et al., 2010).See also chromosome 16p13.3 deletion syndrome (OMIM ), a severe form of Rubinstein-Taybi syndrome resulting from a contiguous gene deletion involving the CREBBP gene as well as other neighboring genes.

RUBINSTEIN-TAYBI SYNDROME 1; RSTS1 Is also known as broad thumbs and great toes, characteristic facies, and mental retardation|rubinstein syndrome|rsts|broad thumb-hallux syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about RUBINSTEIN-TAYBI SYNDROME 1; RSTS1

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

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

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

An autosomal recessive form of rickets caused by inactivating mutation(s) in the CYP2R1 gene, encoding vitamin D 25-hydroxylase, the hepatic enzyme that converts vitamin D to 25-hydroxyvitamin D, the precursor of 1,25-dihydroxyvitamin D (calcitriol). The condition is characterized by reduced serum concentrations of 25-hydroxyvitamin D, hypophosphatemia, hypocalcemia with secondary hyperparathyroidism and elevated serum alkaline phosphatase, and by failure to thrive, seizures, muscle weakness, and rickets.

VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B; VDDR1B Is also known as 25-hydroxyvitamin d3 deficiency, selective|pseudovitamin d3 deficiency rickets due to 25-hydroxylase deficiency|vitamin d-dependent rickets, type 1b

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia


SOURCES: OMIM MESH MENDELIAN

More info about VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B; VDDR1B

Childhood-onset hypophosphatasia is a rare, mildform of hypophosphatasia (see this term) characterized by onset after six months of age and widely variable clinical features from low bone mineral density for age, to unexplained fractures,skeletal deformities,and rickets with short stature and waddling gait.

CHILDHOOD-ONSET HYPOPHOSPHATASIA Is also known as childhood-onset phosphoethanolaminuria|childhood-onset rathburn disease

Related symptoms:

  • Seizures
  • Short stature
  • Pain
  • Motor delay
  • Frontal bossing


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CHILDHOOD-ONSET HYPOPHOSPHATASIA

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 Unsteady gait

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

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Spasticity Hearing impairment Failure to thrive Flexion contracture Micrognathia Muscular hypotonia Microcephaly Motor delay Macrocephaly Abnormality of the skeletal system Syndactyly Bowing of the legs Gait ataxia Short stature Cataract Visual impairment Epicanthus Cerebral cortical atrophy Delayed speech and language development Optic atrophy Encephalopathy Constipation

Rare Symptoms - Less than 30% cases

Wide nasal bridge Ventricular septal defect Abnormality of extrapyramidal motor function Gait disturbance Downslanted palpebral fissures Scoliosis Cognitive impairment Inability to walk Feeding difficulties Tetraparesis Hypertelorism Lewy bodies Choreoathetosis Severe muscular hypotonia Behavioral abnormality Gastroesophageal reflux Absent speech Wide anterior fontanel Proptosis Retrognathia Deeply set eye Growth delay Prominent fingertip pads Frontal upsweep of hair Recurrent fractures Dental malocclusion Megalencephaly Hypoplasia of dental enamel Broad hallux Impulsivity Narrow palate Dental crowding Hypospadias Aganglionic megacolon Broad thumb Prominent nose Single transverse palmar crease Dolichocephaly Craniosynostosis Intellectual disability, moderate Joint laxity Rigidity Parkinsonism Hyperactivity Agenesis of corpus callosum Abnormal heart morphology Patent ductus arteriosus Midface retrusion Cryptorchidism Prominent forehead Dementia Ataxia Nystagmus Peripheral neuropathy Hyperreflexia Cerebral atrophy Mental deterioration Tremor Cerebellar atrophy Dysarthria Dystonia Sensorimotor neuropathy Truncal obesity Elevated urine pyrophosphate Elevated plasma pyrophosphate Skin dimple over apex of long bone angulation Delayed cranial suture closure Poor eye contact Phosphoethanolaminuria Laryngomalacia Recurrent upper respiratory tract infections Bicuspid aortic valve Spina bifida occulta Low anterior hairline Low alkaline phosphatase Neuroblastoma Congenital glaucoma Capillary hemangioma Dyslexia Waddling gait Meningioma Short attention span Hypoplastic iliac wing Low hanging columella Premature loss of primary teeth Obstructive sleep apnea Neurofibromas Rachitic rosary Self-mutilation Patellar dislocation Poor coordination Overweight Shawl scrotum Exotropia Dislocated radial head Cafe-au-lait spot Long eyelashes Mandibular prognathia Abnormality of the pinna Joint hypermobility Pulmonic stenosis Leukemia Coloboma Respiratory tract infection Postnatal growth retardation Feeding difficulties in infancy Hirsutism Abnormality of the kidney Cutaneous finger syndactyly EEG abnormality Thin upper lip vermilion Pes planus Polyhydramnios Thick eyebrow Short finger Facial palsy Coarctation of aorta Facial asymmetry Stereotypy Abnormality of refraction Nail dysplasia Mitral regurgitation Low posterior hairline Convex nasal ridge Hyperostosis Otitis media Overgrowth Small nail Hypoplasia of the maxilla Increased intracranial pressure Highly arched eyebrow Iris coloboma Flared iliac wings Arthralgia Avascular necrosis of the capital femoral epiphysis Enlarged tonsils Metaphyseal irregularity Plantar crease between first and second toes Radial deviation of thumb terminal phalanx Abnormal number of teeth High axial triradius Papillary cystadenoma of the epididymis Talon cusp Neurological speech impairment Deviated nasal septum Premature thelarche Narrow maxilla Flat occiput Hypophosphatemia Large foramen magnum Agoraphobia Rickets Abnormality of movement Femoral bowing Bone pain Self-injurious behavior Involuntary movements Epileptic encephalopathy Muscle weakness Difficulty walking Intellectual disability, severe Hypoplasia of the corpus callosum Cogwheel rigidity Poor speech Elevated alkaline phosphatase Shuffling gait Resting tremor Slurred speech Bradykinesia Cerebral calcification Dyskinesia Narrow mouth Tibial bowing Carious teeth Phonophobia Deformed rib cage Abnormality of the cervical spine Pain Facial grimacing Tethered cord Myopathy Broad distal phalanx of finger Bulging of the costochondral junction Rhabdomyosarcoma Nasolacrimal duct obstruction Osteoporosis Abnormal cornea morphology Neurodevelopmental delay Medulloblastoma Pheochromocytoma Parietal foramina Short upper lip Bifid uterus Enlargement of the wrists Delayed epiphyseal ossification Thin bony cortex Difficulty standing Fibular bowing Widely patent fontanelles and sutures Vascular ring Duplication of phalanx of hallux Dyscalculia Bimanual synkinesia Enlargement of the costochondral junction Chorioretinal dystrophy Keloids Enlargement of the ankles Sparse bone trabeculae Duane anomaly Bulging epiphyses Autism Radial deviation of finger Polydactyly Generalized muscle weakness Decreased nerve conduction velocity Progressive neurologic deterioration Spastic tetraplegia Neuronal loss in central nervous system Gliosis Generalized myoclonic seizures Tetraplegia Neurodegeneration Keratitis Abnormality of the cerebral white matter Abnormal pyramidal sign Paralysis Developmental regression Muscular hypotonia of the trunk Hypothyroidism Areflexia Poor suck Epiphora Abnormality of metabolism/homeostasis Spinal deformities Cleft palate Sensorineural hearing impairment Cerebellar gliosis Hypothalamic hypothyroidism Autoamputation of digits Autoamputation Cerebellar cortical atrophy EMG: chronic denervation signs Diabetes insipidus Degeneration of the lateral corticospinal tracts Urinary retention Morphological abnormality of the pyramidal tract Corpus callosum atrophy Gangrene Abnormality of visual evoked potentials Keratoconjunctivitis sicca Visual loss Short nose Short neck Abnormality of the liver Sensory neuropathy Distal sensory impairment Cirrhosis Nausea Peripheral axonal neuropathy Confusion Retinopathy Irritability Coma Photophobia Hypogonadism Rod-cone dystrophy Depressivity Headache Vomiting Hepatomegaly Polyneuropathy Sensory impairment Fever Paraparesis Biliary tract abnormality Fat malabsorption Iris hypopigmentation Atrophy/Degeneration affecting the brainstem Agitation Apathy Spastic paraparesis Bilateral single transverse palmar creases Migraine Hypergonadotropic hypogonadism Cholestasis Hemiparesis Intention tremor Status epilepticus Type II diabetes mellitus Pigmentary retinopathy Myopia Hydrocephalus Glaucoma Anteriorly placed anus Sagittal craniosynostosis Gastrointestinal dysmotility Delayed closure of the anterior fontanelle Facial hypotonia Skin tags Thoracic scoliosis Anal stenosis Partial agenesis of the corpus callosum Microtia, first degree Abnormality of the sternum High pitched voice Multiple joint contractures Chorioretinal coloboma Congenital contracture Pyloric stenosis Relative macrocephaly Abnormality of the nasopharynx Postnatal macrocephaly Sacral dimple Respiratory distress Clinodactyly of the 5th finger Delayed skeletal maturation Arrhythmia Pectus excavatum Immunodeficiency Abnormality of the dentition Atrial septal defect Dysphagia Auricular pit Hypertension High palate Low-set ears Ptosis Abnormal facial shape Neoplasm Facial wrinkling Optic nerve hypoplasia Plagiocephaly Long philtrum Umbilical hernia Wide mouth Camptodactyly Cleft lip Telecanthus Aggressive behavior Anxiety Neonatal hypotonia Macrotia Attention deficit hyperactivity disorder Respiratory failure Posteriorly rotated ears Cerebellar hypoplasia Inguinal hernia Clinodactyly Abnormality of cardiovascular system morphology Dilatation Sparse hair Broad forehead Joint contracture of the hand Fine hair Gynecomastia Pachygyria Heterotopia Open mouth Choanal atresia Split hand Thick lower lip vermilion Lumbar hyperlordosis Severe global developmental delay Webbed neck Intestinal malrotation Triangular face Downturned corners of mouth Thin vermilion border Cleft upper lip Anal atresia Sclerotic vertebral endplates


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