Delayed speech and language development, and Frontal bossing

Diseases related with Delayed speech and language development and Frontal bossing

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


Top matches:

High match MENTAL RETARDATION, X-LINKED 93; MRX93

MENTAL RETARDATION, X-LINKED 93; MRX93 Is also known as mental retardation, x-linked, with macrocephaly

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Muscular hypotonia
  • Cryptorchidism
  • Delayed speech and language development


SOURCES: MESH OMIM UMLS MONDO

More info about MENTAL RETARDATION, X-LINKED 93; MRX93

High match WAISMAN SYNDROME; WSMN

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.

WAISMAN SYNDROME; WSMN Is also known as parkinsonism, early-onset, with mental retardation, basal ganglion disorder with mental retardation;bgmr, wsn;laxova-opitz syndrome; waisman syndrome

Related symptoms:

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


SOURCES: OMIM MONDO MESH UMLS SCTID GARD ORPHANET

More info about WAISMAN SYNDROME; WSMN

High match FG SYNDROME 2; FGS2

Although the phenotypic spectrum and severity of FG syndrome is wide, the cardinal features include congenital hypotonia, delayed speech development, relative macrocephaly, dysmorphic facies, and anal anomalies or severe constipation (Unger et al., 2007).For a general phenotypic description and a discussion of genetic heterogeneity of FG syndrome, see FGS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Failure to thrive
  • Delayed speech and language development
  • Macrocephaly


SOURCES: OMIM UMLS GARD MONDO

More info about FG SYNDROME 2; FGS2

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Other less relevant matches:

High match CRANIOSYNOSTOSIS 4; CRS4

Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by Fitzpatrick, 2013). Craniosynostosis-4 includes lambdoid, sagittal, metopic, coronal, and multisuture forms.For a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (OMIM ).

Related symptoms:

  • Autosomal dominant inheritance
  • Hypertelorism
  • Ptosis
  • Depressed nasal bridge
  • Delayed speech and language development


SOURCES: MONDO UMLS OMIM

More info about CRANIOSYNOSTOSIS 4; CRS4

High match HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY

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

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET DOID UMLS OMIM MESH MONDO

More info about HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY

High match ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT

Mutations in the NFKBIA gene result in functional impairment of NFKB1 (OMIM ), a master transcription factor required for normal activation of immune responses. Interruption of NFKB1 signaling results in decreased production of proinflammatory cytokines and certain interferons, rendering patients susceptible to infection (McDonald et al., 2007).

Related symptoms:

  • Autosomal dominant inheritance
  • Growth delay
  • Failure to thrive
  • Delayed speech and language development
  • Tics


SOURCES: MESH MONDO OMIM UMLS

More info about ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT

High match JOUBERT SYNDROME 10; JBTS10

Joubert syndrome is characterized by a specific hindbrain formation, hypotonia, cerebellar ataxia, dysregulated breathing patterns, and developmental delay. Ciliary dysfunction is a key factor in the pathogenesis (Coene et al., 2009).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

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


SOURCES: UMLS DOID MESH OMIM MONDO

More info about JOUBERT SYNDROME 10; JBTS10

High match DEVELOPMENTAL AND SPEECH DELAY DUE TO SOX5 DEFICIENCY

Developmental and speech delay due to SOX5 deficiency is a rare genetic syndromic intellectual disability characterized by mild to severe global developmental delay, intellectual disability and behavioral abnormalities, hypotonia, strabismus, optic nerve hypoplasia and mild facial dysmorphic features (down slanting palpebral fissures, frontal bossing, crowded teeth, auricular abnormalities and prominent philtral ridges). Other associated clinical features may include seizures and skeletal anomalies (kyphosis/scoliosis, pectus deformities).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Strabismus
  • Motor delay


SOURCES: ORPHANET

More info about DEVELOPMENTAL AND SPEECH DELAY DUE TO SOX5 DEFICIENCY

High match MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE

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.

MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE Is also known as mental retardation, x-linked 60, formerly;mrx60, formerly;ophn1 syndrome; oligophrenin-1 syndrome

Related symptoms:

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


SOURCES: ORPHANET SCTID GARD MESH OMIM UMLS MONDO

More info about MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE

High match MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR

Macrocephaly, dysmorphic facies, and psychomotor retardation (MDFPMR) is an autosomal recessive neurodevelopmental disorder characterized by large head and somatic overgrowth apparent at birth followed by global developmental delay. Affected individuals have characteristic dysmorphic facial features and persistently large head, but increased birth weight normalizes with age. Additional neurologic features, including seizures, hypotonia, and gait ataxia, may also occur. Patients show severe intellectual impairment (summary by Ortega-Recalde et al., 2015).

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: UMLS OMIM

More info about MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Frontal bossing

Symptoms // Phenotype % cases
Macrocephaly Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Oxycephaly Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Prominent forehead Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Global developmental delay X-linked recessive inheritance Motor delay Failure to thrive Poor speech Hypertelorism Macrotia Infantile onset Long face Triangular face Strabismus Muscular hypotonia

Rare Symptoms - Less than 30% cases


Enlarged cisterna magna Mandibular prognathia Cephalocele Feeding difficulties Abnormal cerebellum morphology Encephalocele Proptosis Malar flattening Ptosis Autosomal dominant inheritance Autosomal recessive inheritance Ventriculomegaly Gait ataxia Cerebral cortical atrophy Cerebellar hypoplasia Growth delay Lumbar hyperlordosis Recurrent infections Attention deficit hyperactivity disorder Myopia Low-set ears Scoliosis Infra-orbital crease Absent speech Cerebellar vermis hypoplasia Neonatal hypotonia Downslanted palpebral fissures Cryptorchidism Tremor Tall stature Megalencephaly Protruding ear Neurological speech impairment Pes planus Kyphosis Acrania Congenital onset Stereotypy Slender build Communicating hydrocephalus Dental crowding Mitral regurgitation Exotropia Long foot Narrow palate Long neck 2-3 toe syndactyly Vertebral fusion Self-injurious behavior Hyperplasia of the maxilla Thoracic kyphoscoliosis Butterfly vertebrae Abnormality of brain morphology Pectus carinatum Abnormality of the genital system Anxiety Thick vermilion border Wide nasal bridge Rod-cone dystrophy Thick corpus callosum Polydactyly EEG abnormality Feeding difficulties in infancy Polymicrogyria Hirsutism Postaxial polydactyly Aggressive behavior Intellectual disability, profound Deep philtrum Molar tooth sign on MRI Metopic synostosis Expressive language delay Optic atrophy Ataxia Gastroesophageal reflux Exaggerated median tongue furrow Spasticity Nystagmus Cerebellar cyst Scrotal hypoplasia Prominent supraorbital ridges Focal seizures with impairment of consciousness or awareness Hyperlordosis Long nose External genital hypoplasia Joint laxity Poor eye contact Microphallus Intention tremor Kyphoscoliosis High forehead Abnormality of the philtrum Retrocerebellar cyst Disorganization of the anterior cerebellar vermis High palate Hydrocephalus Posteriorly rotated ears Cerebellar atrophy Difficulty walking Prominent nasal bridge Abnormal facial shape Overgrowth Upslanted palpebral fissure Intellectual disability, severe Dilatation Disproportionate tall stature Long fingers Sparse eyebrow Micropenis Large hands Hyperactivity Prominent nose Autism Intellectual disability, moderate Thin upper lip vermilion Short philtrum Deeply set eye Dysmetria High myopia Arachnodactyly Focal seizures Hypotelorism Fine hair Nevus Craniosynostosis Anteriorly placed anus Large forehead Underdeveloped superior crus of antihelix Depressed nasal bridge Anteverted nares Short nose Midface retrusion Retrognathia Telecanthus Small hand X-linked inheritance Microretrognathia Plagiocephaly Optic nerve hypoplasia Increased intracranial pressure Flat occiput Arnold-Chiari type I malformation Anterior plagiocephaly Lambdoidal craniosynostosis Craniofacial dysostosis Ectopic posterior pituitary Recurrent pneumonia Constipation Pansynostosis Abnormality of movement Intellectual disability, mild Pectus excavatum Pointed chin Cupped ear Thoracic kyphosis Cognitive impairment Dysarthria Dementia Rigidity Abnormal pyramidal sign Parkinsonism Cogwheel rigidity Dyskinesia Cerebral calcification Bradykinesia Abnormality of extrapyramidal motor function Athetosis Choreoathetosis Resting tremor Slurred speech Lewy bodies Shuffling gait Prominent scalp veins Posterior plagiocephaly Epicanthus Anhidrosis Respiratory tract infection Sparse hair Dry skin Hypodontia Ectodermal dysplasia Sparse scalp hair Bronchiectasis Hypohidrosis Chronic diarrhea Leukocytosis Agammaglobulinemia Arthritis Concave nasal ridge Heat intolerance Conical tooth Lymphocytosis Hidrotic ectodermal dysplasia Recurrent infection of the gastrointestinal tract Anhidrotic ectodermal dysplasia Periorbital wrinkles Aplasia of the sweat glands Pica Hepatosplenomegaly Immunodeficiency Hearing impairment Cholestasis Sensorineural hearing impairment Muscle weakness Skeletal muscle atrophy Atrial septal defect Cerebral atrophy Progressive Elevated hepatic transaminase Pulmonic stenosis Hepatic steatosis Coarctation of aorta Progressive muscle weakness Recurrent respiratory infections Decreased liver function Hyperbilirubinemia Secundum atrial septal defect Portal fibrosis Hypermethioninemia Narrow foot Tics Splenomegaly Diarrhea Pneumonia Severe expressive language delay



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