Frontal bossing, and Developmental regression

Diseases related with Frontal bossing and Developmental regression

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

Top matches:

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

Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS; see this term), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD) (see this term).

NEONATAL ADRENOLEUKODYSTROPHY Is also known as nald

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEONATAL ADRENOLEUKODYSTROPHY

High match SIALURIA

Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood.

SIALURIA Is also known as sialuria, french type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about SIALURIA

Other less relevant matches:

Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy.

PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY Is also known as pseudoneonatal adrenoleukodystrophy|pseudo-neonatal adrenoleukodystrophy|pseudo-nald|pseudoadrenoleukodystrophy|straight-chain acyl-coa oxidase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY

High match DYSOSTEOSCLEROSIS

Dysosteosclerosis is a skeletal dysplasia characterized by progressive osteosclerosis and platyspondyly.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DYSOSTEOSCLEROSIS

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

ZTTK syndrome is a severe multisystem developmental disorder characterized by delayed psychomotor development and intellectual disability. Affected individuals have characteristic dysmorphic facial features, hypotonia, poor feeding, poor overall growth, and eye or visual abnormalities. Most patients also have musculoskeletal abnormalities, and some have congenital defects of the heart and urogenital system. Brain imaging usually shows developmental abnormalities such as gyral changes, cortical and/or cerebellar atrophy, and thin corpus callosum (summary by Kim et al., 2016).

BRAIN MALFORMATIONS-MUSCULOSKELETAL ABNORMALITIES-FACIAL DYSMORPHISM-INTELLECTUAL DISABILITY SYNDROME Is also known as zttk multiple congenital anomalies-mental retardation syndrome|zhu-tokita-takenouchi-kim syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about BRAIN MALFORMATIONS-MUSCULOSKELETAL ABNORMALITIES-FACIAL DYSMORPHISM-INTELLECTUAL DISABILITY SYNDROME

Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade.

MUCOPOLYSACCHARIDOSIS TYPE 2, SEVERE FORM Is also known as mucopolysaccharidosis type ii, severe form|mps2a|iduronate 2-sulfatase deficiency type a|mucopolysaccharidosis type 2a|hunter syndrome type a|mpsiia|mucopolysaccharidosis type iia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS TYPE 2, SEVERE FORM

GM1-Gangliosidosis is an autosomal recessive lysosomal storage disease characterized by accumulation of ganglioside substrates in lysosomes. Clinically, patients show variable degrees of neurodegeneration and skeletal abnormalities. There are 3 main clinical variants categorized by severity and variable residual beta-galactosidase activity. Type I, or infantile form, shows rapid psychomotor deterioration beginning within 6 months of birth, generalized central nervous system involvement, hepatosplenomegaly, facial dysmorphism, macular cherry-red spots, skeletal dysplasia, and early death. Type II, or late-infantile/juvenile form (OMIM ), has onset between 7 months and 3 years, shows generalized central nervous system involvement with psychomotor deterioration, seizures, localized skeletal involvement, and survival into childhood. Hepatosplenomegaly and cherry-red spots are usually not present. Type III, or adult/chronic form (OMIM ), shows onset from 3 to 30 years and is characterized by localized skeletal involvement and localized central nervous system involvement, such as dystonia or gait or speech disturbance. There is an inverse correlation between disease severity and residual enzyme activity (Suzuki et al., 2001).See also Morquio B disease (OMIM ), an allelic disorder with skeletal anomalies and no neurologic involvement.The GM2-gangliosidoses include Tay-Sachs disease (OMIM ) and Sandhoff disease (OMIM ).

GM1-GANGLIOSIDOSIS, TYPE I Is also known as gangliosidosis, generalized gm1, type 1|gangliosidosis, generalized gm1, type i|glb1 deficiency|gangliosidosis, generalized gm1, infantile form|beta-galactosidase-1 deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about GM1-GANGLIOSIDOSIS, TYPE I

In decreasing order of frequency, 3 forms of Alexander disease are recognized, based on age of onset: infantile, juvenile, and adult. Younger patients typically present with seizures, megalencephaly, developmental delay, and spasticity. In older patients, bulbar or pseudobulbar symptoms predominate, frequently accompanied by spasticity. The disease is progressive, with most patients dying within 10 years of onset. Imaging studies of the brain typically show cerebral white matter abnormalities, preferentially affecting the frontal region (Gorospe et al., 2002). All 3 forms have been shown to be caused by mutations in the GFAP gene.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALEXANDER DISEASE; ALXDRD

Top 5 symptoms//phenotypes associated to Frontal bossing and Developmental regression

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Macrocephaly Common - Between 50% and 80% cases
Optic atrophy Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Nystagmus

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Short stature Prominent forehead Hyperreflexia High palate Muscular hypotonia Strabismus Hearing impairment Low-set ears Abnormality of metabolism/homeostasis Epicanthus Depressed nasal bridge Spasticity Scoliosis Abnormality of the cerebral white matter Abnormal facial shape Hypertelorism Wide nasal bridge Hepatomegaly Kyphosis Inguinal hernia Tetraplegia Dystonia Growth delay EEG abnormality Dementia Ataxia Short neck Blindness Postnatal growth retardation Failure to thrive Macroglossia Hepatosplenomegaly Coarse facial features Osteopenia Visual impairment

Rare Symptoms - Less than 30% cases

Neurodegeneration Gait disturbance Abnormal pyramidal sign Respiratory failure Spinal deformities Gliosis Dysostosis multiplex Respiratory insufficiency Hypoplasia of the corpus callosum Dysphagia Abnormality of visual evoked potentials Hypothyroidism Ventricular septal defect Muscle weakness Tremor Weight loss Hypoplastic vertebral bodies Hyperlordosis Rough bone trabeculation Abnormality of the metaphysis Cerebral calcification Skeletal dysplasia Abnormality of the dentition Micrognathia Neurological speech impairment Beaking of vertebral bodies Encephalitis Flexion contracture Joint stiffness Cerebellar atrophy Short nose Leukodystrophy Spastic tetraplegia Visual loss Peripheral demyelination Constipation Protuberant abdomen Severe muscular hypotonia Sleep apnea Abnormality of the skeletal system Thin upper lip vermilion Hyperactivity Long philtrum Severe global developmental delay Cognitive impairment Periorbital fullness Sensorineural hearing impairment Mandibular prognathia Ptosis Feeding difficulties Anteverted nares Esotropia High, narrow palate Abnormality of movement Elevated hepatic transaminase Splenomegaly Generalized hirsutism Smooth philtrum Joint hypermobility Downslanted palpebral fissures Autism Morphological abnormality of the central nervous system Short digit Horseshoe kidney Abnormality of mucopolysaccharide metabolism Dermatan sulfate excretion in urine Hemivertebrae Edema of the lower limbs Communicating hydrocephalus Short foot Intervertebral space narrowing Abnormality of the skull Infantile muscular hypotonia Cerebral visual impairment Thoracolumbar kyphosis Increased mean corpuscular volume Abnormality of the ribs Inspiratory stridor Hypochromic anemia Anisopoikilocytosis Exotropia Hyperplasia of the maxilla Urinary glycosaminoglycan excretion Abnormality of the optic disc Heparan sulfate excretion in urine Full cheeks J-shaped sella turcica Obstructive lung disease Narrow forehead Relative macrocephaly Pericardial effusion Insomnia Pulmonary arterial hypertension Abnormality of the face Dyspnea Mitral regurgitation Kyphoscoliosis Umbilical hernia Recurrent otitis media Mitral valve prolapse Proptosis Abnormality of the cardiovascular system Aggressive behavior Cyanosis Limitation of joint mobility Dysplastic aortic valve Ascites Thickened skin Behavioral abnormality Distal arthrogryposis Curly hair Sparse eyebrow Protruding tongue Tachycardia Unilateral renal agenesis Heart murmur Abnormality of coagulation Arachnoid cyst Progressive hearing impairment Soft skin Periventricular leukomalacia Recurrent upper respiratory tract infections Intestinal atresia Increased intracranial pressure Edema Tachypnea Focal seizures, afebril Psychomotor deterioration Localized skin lesion Chorea Dysphonia Leukoencephalopathy Abnormal autonomic nervous system physiology Muscle stiffness Clonus Diplopia Amenorrhea Hypotension Sudden cardiac death Self-injurious behavior Sleep disturbance Dysmetria Abnormality of eye movement Nausea and vomiting Cough Facial palsy Diabetes mellitus Hyperhidrosis Precocious puberty Oral-pharyngeal dysphagia Hyporeflexia Bulbar signs Microcoria Hyperpigmented nevi Recurrent singultus Progressive macrocephaly Pseudobulbar signs Large face Hypersomnia Aqueductal stenosis Hypothermia Emotional lability Megalencephaly Poor coordination Increased CSF protein Drowsiness Atrophy/Degeneration affecting the brainstem Muscle fibrillation Progressive spasticity Bowel incontinence Dysphasia Agenesis of corpus callosum Depressivity Abnormality of nasopharyngeal adenoids Corneal opacity Abnormal form of the vertebral bodies Hypertrichosis Depressed nasal ridge Cardiomegaly Abnormality of the skin Broad nasal tip Abdominal distention Dilated cardiomyopathy Camptodactyly of finger Gingival overgrowth Hypertrophic cardiomyopathy Arthralgia Macrotia Severe short stature Recurrent respiratory infections Congestive heart failure Cardiomyopathy Skeletal muscle atrophy Abnormality of epiphysis morphology Abnormality of the urinary system Vomiting Abnormality of the scrotum Hydrocephalus Dysarthria Hypertension Motor delay Abnormality of ganglioside metabolism Decreased beta-galactosidase activity Cerebral degeneration Thickened ribs Angiokeratoma corporis diffusum Bundle branch block Cherry red spot of the macula Vacuolated lymphocytes Exaggerated startle response Thin vermilion border Abnormal diaphysis morphology Aplasia/Hypoplasia of the abdominal wall musculature Abnormality of the retinal vasculature Generalized dystonia Abnormal heart valve morphology Small hand Unsteady gait Arachnodactyly Retinopathy Intellectual disability, progressive Bilateral sensorineural hearing impairment Generalized-onset seizure Pigmentary retinopathy Brain atrophy Hypodontia Retinal degeneration Irritability Hand polydactyly Neonatal hypotonia Polydactyly Brachycephaly Myoclonus Babinski sign Hypertonia Intellectual disability, severe Myopia Abnormal electroretinogram Inverted nipples Long hallux Round face Flared metaphysis Increased susceptibility to fractures Dermal atrophy Oligodontia Abnormality of dental enamel Short ribs Increased bone mineral density Recurrent fractures Decreased light- and dark-adapted electroretinogram amplitude Delayed eruption of teeth Narrow chest Platyspondyly Diffuse hepatic steatosis No social interaction Abnormality of nervous system morphology Tapetoretinal degeneration CNS demyelination Expressive language delay Prolonged prothrombin time Disproportionate short stature Abnormality of the liver Abnormal palate morphology Bilateral single transverse palmar creases Wide anterior fontanel Decreased liver function Abnormality of retinal pigmentation Retinal dystrophy Dolichocephaly Low-set, posteriorly rotated ears Adrenal insufficiency High forehead Cataract Broad eyebrow Dermal translucency Speech apraxia Pointed chin Apraxia Immunodeficiency Abnormality of neuronal migration Primary adrenal insufficiency Abnormality of the mitochondrion Hyperkinesis Prolonged partial thromboplastin time Upper airway obstruction Episodic abdominal pain Hypoplastic nipples Thoracic hypoplasia 2-3 toe syndactyly Cholelithiasis Hoarse voice Polar cataract Low posterior hairline Memory impairment Synophrys Attention deficit hyperactivity disorder Abdominal pain Intellectual disability, mild Pain Elevated long chain fatty acids Aplasia/Hypoplasia of the skin Macular atrophy Facial asymmetry Keratitis Morphological abnormality of the pyramidal tract Corpus callosum atrophy Lewy bodies Gangrene Keratoconjunctivitis sicca Diabetes insipidus Epiphora Poor suck Degeneration of the lateral corticospinal tracts Decreased nerve conduction velocity Sensorimotor neuropathy Choreoathetosis Progressive neurologic deterioration Tetraparesis Abnormality of extrapyramidal motor function Neuronal loss in central nervous system Generalized myoclonic seizures Urinary retention EMG: chronic denervation signs Generalized muscle weakness Narrow mouth Hypermetropia Short philtrum Craniosynostosis Autistic behavior Protruding ear Joint laxity Deeply set eye Cerebellar hypoplasia Cerebellar cortical atrophy Abnormality of cardiovascular system morphology Respiratory distress Ventriculomegaly Cleft palate Cerebellar gliosis Hypothalamic hypothyroidism Autoamputation of digits Autoamputation Parkinsonism Paralysis Natal tooth Craniofacial hyperostosis Vertebral hypoplasia Sclerosis of skull base Narrow iliac wings Diaphyseal thickening Broad femoral neck Short sternum Delayed closure of the anterior fontanelle Broad ribs Absent frontal sinuses Facial paralysis Osteopetrosis Abnormal cranial nerve morphology Obstructive sleep apnea Irregular vertebral endplates Premature loss of teeth Proportionate short stature Thin ribs Abducens palsy Delayed eruption of primary teeth Mental deterioration Progressive bowing of long bones Muscular hypotonia of the trunk Cerebral cortical atrophy Areflexia Encephalopathy Cerebral atrophy Fever Peripheral neuropathy Increased intervertebral space Parietal bossing Sclerosis of hand bone Sclerotic scapulae Abnormal metaphyseal trabeculation Clavicular sclerosis Short diaphyses Absent paranasal sinuses Optic nerve compression Cranial nerve compression Diffuse demyelination of the cerebral white matter


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