Frontal bossing, and Poor speech

Diseases related with Frontal bossing and Poor speech

In the following list you will find some of the most common rare diseases related to Frontal bossing and Poor speech 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

Hypermethioninemia encephalopathy due to adenosine kinase deficiency is a rare inborn error of metabolism disorder characterized by persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine which manifests with encephalopathy, severe global developmental delay, mild to severe liver dysfunction, hypotonia and facial dysmorphism (most significant is frontal bossing, macrocephaly, hypertelorism and depressed nasal bridge). Epileptic seizures, hypoglycemia and/or cardiac defects (pulmonary stenosis, atrial and/or ventricular septal defect, coarctation of the aorta) may be associated. Clinical picture may range from neurological symptoms only to multi-organ involvement.

HYPERMETHIONINEMIA ENCEPHALOPATHY DUE TO ADENOSINE KINASE DEFICIENCY Is also known as mental retardation, autosomal recessive 8, formerly|adk hypermethioninemia|mrt8, formerly|hypermethioninemia encephalopathy due to adk deficiency

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HYPERMETHIONINEMIA ENCEPHALOPATHY DUE TO ADENOSINE KINASE DEFICIENCY

Other less relevant matches:

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-MACROCEPHALY-HYPOTONIA-BEHAVIORAL ABNORMALITIES SYNDROME

High match ALG9-CDG

ALG9-CDG is a form of congenital disorders of N-linked glycosylation characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly. Additional features that may be observed include failure to thrive, pericardial effusion, renal cysts, skeletal dysplasia, facial dysmorphism (frontal bossing, hypertelorism, depressed nasal bridge, low-seated ears, large mouth) and hydrops fetalis (see this term). The disease is caused by loss-of-function mutations in the gene ALG9 (11q23).

ALG9-CDG Is also known as cdg syndrome type il|cdg-il|carbohydrate deficient glycoprotein syndrome type 1l|cdg il|cdgil|congenital disorder of glycosylation type 1l|cdg1l|mannosyltransferase 7-9 deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALG9-CDG

GDACCF is an intellectual disability syndrome apparent soon after birth with neonatal hypotonia, poor feeding, and respiratory insufficiency followed by delayed psychomotor development and intellectual disability with poor speech. Brain imaging shows aplasia or hypoplasia of the corpus callosum. Affected individuals have variable dysmorphic facial features, and some may have dysplastic, cystic kidneys or mild cardiac defects (summary by Stevens et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES; GDACCF

X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities.

X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME Is also known as oligophrenin-1 syndrome|ophn1 syndrome|mental retardation, x-linked 60, formerly|mrx60, formerly

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME

Macrocephaly-intellectual disability-left ventricular non compaction syndrome is a rare, genetic, syndromic intellectual disability characterized by motor and cognitive developmental delay with language impairment, macrocephaly, hypotonia, dysmorphic facial features (including long face, slanting palpebral fissures and prominent, flattened nose) and left ventricular noncompaction cardiomyopathy. Patients also present skeletal abnormalities (e.g. scoliosis, finger clinodactyly, pes planus), slender build and shy behavior. Strabismus and various neurological signs (including ataxia, tremor and hyperreflexia) may be associated, as well as epilepsy, autism and MRI findings showing a small cerebellum and abnormalities of the corpus callosum. A phenotypic variant with no cardiac involvement has been reported.

MACROCEPHALY-INTELLECTUAL DISABILITY-LEFT VENTRICULAR NON COMPACTION SYNDROME Is also known as mrxsml|mental retardation, x-linked, syndromic, mircsof-langouet type

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MACROCEPHALY-INTELLECTUAL DISABILITY-LEFT VENTRICULAR NON COMPACTION SYNDROME

Infantile hypotonia with psychomotor retardation and characteristic facies-2 is a severe autosomal recessive neurodevelopmental disorder with onset at birth or in early infancy. Affected individuals show severe global developmental delay with poor or absent speech and absent or limited ability to walk. Some patients may have seizures that can be controlled; brain structure is typically normal (summary by Shamseldin et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of infantile hypotonia with psychomotor retardation and characteristic facies, see IHPRF1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2; IHPRF2

Top 5 symptoms//phenotypes associated to Frontal bossing and Poor speech

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

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Macrocephaly

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape Failure to thrive Cognitive impairment Tremor Hypertelorism Neonatal hypotonia Downslanted palpebral fissures Hypoplasia of the corpus callosum Microcephaly Short philtrum Prominent nose Wide mouth Open mouth Delayed speech and language development Ventriculomegaly Deeply set eye Long face Neurological speech impairment Feeding difficulties Triangular face

Rare Symptoms - Less than 30% cases

Low-set ears Scoliosis Brachycephaly Encephalopathy Kyphosis Joint laxity Muscular hypotonia of the trunk Muscular hypotonia Absent speech Ataxia Abnormal cardiac septum morphology Increased head circumference Facial hypotonia Infra-orbital crease Hip dislocation Prominent forehead Nystagmus Brain atrophy Anteverted nares Smooth philtrum Pes planus Autism Upslanted palpebral fissure Thin upper lip vermilion Motor delay Epicanthus Cerebellar hypoplasia Spasticity Abnormal cerebellum morphology Cryptorchidism Inverted nipples Intention tremor Global brain atrophy Esotropia Patent ductus arteriosus Tented upper lip vermilion Myopia Choreoathetosis Hyperactivity Gastroesophageal reflux Coarctation of aorta Cerebral atrophy Broad forehead Atrial septal defect Delayed myelination Dyskinesia Focal-onset seizure Sleep disturbance Tapered finger Small hand Intellectual disability, moderate Dysmetria Attention deficit hyperactivity disorder Inability to walk Bulbous nose Severe global developmental delay Hypotelorism Prominent nasal bridge Cerebellar vermis hypoplasia Osteopenia Intellectual disability, profound Plagiocephaly Macrotia Hip contracture Oval face Narrow philtrum Appendicular hypotonia Generalized tonic seizures Profound global developmental delay Intellectual disability, severe Dilatation Failure to thrive in infancy Severe muscular hypotonia Cerebral cortical atrophy Micropenis Gait ataxia Cachexia Infantile muscular hypotonia Scrotal hypoplasia Mandibular prognathia High forehead External genital hypoplasia Prominent supraorbital ridges Dental crowding Perseveration Speech apraxia Left ventricular noncompaction Slender build Thick vermilion border Right ventricular hypertrophy High, narrow palate Gastrointestinal dysmotility Clonus Deviated nasal septum Widely spaced teeth Mild global developmental delay Relative macrocephaly Poor suck Ankylosis Nasal speech Thickened calvaria Patent foramen ovale Delayed puberty Aggressive behavior Focal impaired awareness seizure Retrocerebellar cyst Hallux valgus Long nose Poor eye contact Enlarged cisterna magna Microphallus Posteriorly rotated ears Constipation Abnormality of the philtrum Disorganization of the anterior cerebellar vermis Kyphoscoliosis Dystonia Short neck High palate Ventricular septal defect Intrauterine growth retardation Malar flattening Narrow mouth Ptosis Broad columella Respiratory insufficiency Mitral stenosis Hydrocephalus Hepatic steatosis Cholestasis Progressive muscle weakness Decreased liver function Hyperbilirubinemia Secundum atrial septal defect Portal fibrosis Hypermethioninemia Narrow foot Diarrhea Elevated hepatic transaminase Hypoglycemia Overgrowth Narrow forehead Chronic diarrhea Congenital hip dislocation Torticollis Pyloric stenosis Congenital muscular torticollis Depressed nasal bridge Pulmonic stenosis Skeletal muscle atrophy Hepatomegaly Parkinsonism Hyperlordosis Microtia Generalized myoclonic seizures Delayed gross motor development Postnatal macrocephaly Dysarthria Dementia Rigidity Abnormality of movement Cerebral calcification Muscle weakness Bradykinesia Abnormality of extrapyramidal motor function Slurred speech Resting tremor Megalencephaly Lewy bodies Shuffling gait Cogwheel rigidity Hearing impairment Sensorineural hearing impairment Hyperreflexia Edema Low hanging columella Renal cyst Abnormal heart morphology Agenesis of corpus callosum Retrognathia Coarse facial features Hydronephrosis Telecanthus Abnormality of the pinna Hypermetropia Talipes Growth hormone deficiency Wide nasal bridge Mitral valve prolapse Short palpebral fissure Renal dysplasia Pointed chin Narrow palate Deep philtrum Flat occiput Hypoplastic left heart Delayed ability to walk Talipes equinovarus Growth delay Cerebellar atrophy Epileptic encephalopathy Short nose Long philtrum Delayed skeletal maturation Skeletal dysplasia Hepatosplenomegaly Hepatic failure Ascites Asthma Wide intermamillary distance Decreased fetal movement Short stature Broad thumb Hydrops fetalis Lipodystrophy Tricuspid regurgitation Cutis marmorata Pericardial effusion Aplasia cutis congenita Central hypotonia Nonimmune hydrops fetalis Delayed CNS myelination Profound static encephalopathy


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