Delayed speech and language development, and Choanal atresia

Diseases related with Delayed speech and language development and Choanal atresia

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


Top matches:

Medium match SWEENEY-COX SYNDROME; SWCOS

Sweeney-Cox syndrome is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears (Kim et al., 2017).

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Ptosis


SOURCES: OMIM

More info about SWEENEY-COX SYNDROME; SWCOS

Medium match OSTEOGLOPHONIC DYSPLASIA; OGD

Osteoglophonic dwarfism (OGD) is characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth.

OSTEOGLOPHONIC DYSPLASIA; OGD Is also known as osteoglophonic dwarfism;osteoglophonic dwarfism

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Pica
  • Scoliosis
  • Hypertelorism


SOURCES: OMIM SCTID GARD UMLS MONDO ORPHANET MESH

More info about OSTEOGLOPHONIC DYSPLASIA; OGD

Medium match MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE; MFDGA

Mandibulofacial dysostosis with microcephaly is a rare syndrome comprising progressive microcephaly, midface and malar hypoplasia, micrognathia, microtia, dysplastic ears, preauricular skin tags, significant developmental delay, and speech delay. Many patients have major sequelae, including choanal atresia that results in respiratory difficulties, conductive hearing loss, and cleft palate (summary by Lines et al., 2012).

MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE; MFDGA Is also known as mandibulofacial dysostosis with microcephaly;mfdm, growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate;mfdm syndrome; mandibulofacial dysostosis, guion-almeida type

Related symptoms:

  • Autosomal recessive inheritance
  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay


SOURCES: MONDO ORPHANET SCTID OMIM MESH UMLS DOID GARD

More info about MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE; MFDGA

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Medium match MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED; MRXS99F

Female-restricted X-linked syndromic mental retardation-99 is an X-linked dominant neurodevelopmental disorder characterized by delayed psychomotor development and mild to moderate intellectual disability. Affected females can have a wide range of additional congenital anomalies, including scoliosis, postaxial polydactyly, mild cardiac or urogenital anomalies, dysmorphic facial features, and mild structural brain abnormalities (summary by Reijnders et al., 2016).

MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED; MRXS99F Is also known as ;x-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females

Related symptoms:

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


SOURCES: MONDO ORPHANET UMLS OMIM

More info about MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED; MRXS99F

Low match CHROMOSOME 22q11.2 DELETION SYNDROME, DISTAL

Distal 22q11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 22, with a highly variable phenotype characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features include prominent forehead, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities, hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognatia and pointed chin. For certain very distal deletions, there is a risk of developing malignant rhabdoid tumours.

CHROMOSOME 22q11.2 DELETION SYNDROME, DISTAL Is also known as distal chromosome 22q11.2 deletion syndrome;distal del(22)(q11.2); distal monosomy 22q11.2

Related symptoms:

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


SOURCES: MESH UMLS DOID OMIM MONDO ORPHANET

More info about CHROMOSOME 22q11.2 DELETION SYNDROME, DISTAL

Low match COFFIN-SIRIS SYNDROME 1; CSS1

Coffin-Siris syndrome is a multiple malformation syndrome characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails. Other more variable features may include poor overall growth, craniofacial abnormalities, spinal anomalies, and congenital heart defects (review by Vergano and Deardorff, 2014). Mutations in the ARID1B gene are the most common cause of Coffin-Siris syndrome (Wieczorek et al., 2013). Genetic Heterogeneity of Coffin-Siris SyndromeForms of Coffin-Siris syndrome have been shown to be caused by mutations in genes encoding subunits of the SWI/SNF complex, also known as the BAF complex, which functions as a chromatin remodeling factor. These include CSS2 (OMIM ), caused by mutation in the ARID1A gene (OMIM ); CSS3 (OMIM ), caused by mutation in the SMARCB1 gene (OMIM ); CSS4 (OMIM ), caused by mutation in the SMARCA4 gene (OMIM ); CSS5 (OMIM ), caused by mutation in the SMARCE1 gene (OMIM ); and CSS6 (OMIM ), caused by mutation in the ARID2 gene (OMIM ).A similar phenotype, Nicolaides-Baraitser syndrome (NCBRS ), is also caused by mutation in a subunit of this complex, i.e., SMARCA2 (OMIM ).

COFFIN-SIRIS SYNDROME 1; CSS1 Is also known as coffin-siris syndrome;css, fifth digit syndrome, mental retardation, autosomal dominant 12;mrd12

Related symptoms:

  • Autosomal recessive inheritance
  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay


SOURCES: OMIM MONDO

More info about COFFIN-SIRIS SYNDROME 1; CSS1

Low match CORNELIA DE LANGE SYNDROME 1; CDLS1

The Cornelia de Lange syndrome (CDLS) is a multisystem malformation syndrome recognized primarily on the basis of characteristic facial dysmorphism, including low anterior hairline, arched eyebrows, synophrys, anteverted nares, maxillary prognathism, long philtrum, thin lips, and 'carp' mouth, in association with prenatal and postnatal growth retardation, mental retardation and, in many cases, upper limb anomalies. However, there is wide clinical variability in this disorder, with milder phenotypes that may be difficult to ascertain on the basis of physical features (summary by Rohatgi et al., 2010).Boyle et al. (2015) provided a detailed review of CDLS, including clinical features, diagnosis, and genetic counseling. Genetic Heterogeneity of Cornelia de Lange SyndromeAbout 50 to 60% of the cases of CDLS are due to mutation in the NIPBL gene (Musio et al., 2006; Rohatgi et al., 2010).One X-linked form of CDLS (CDLS2 ) is caused by mutation in the SMC1A gene (OMIM ), which accounts for about 5% of cases. Two milder variants of Cornelia de Lange syndrome have been identified: CDLS3 (OMIM ), caused by mutation in the SMC3 gene (OMIM ), and CDLS4 (OMIM ), caused by mutation in the RAD21 gene (OMIM ). All 4 genes, NIPBL, SMC1A, SMC3, and RAD21, encode components of the cohesin complex. Another X-linked form, CDLS5 (OMIM ), is caused by mutation in the HDAC8 gene (OMIM ), the vertebrate histone deacetylase of SMC3.

CORNELIA DE LANGE SYNDROME 1; CDLS1 Is also known as cdl;cdls, typus degenerativus amstelodamensis, de lange syndrome, brachmann-de lange syndrome;bdls

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: NCIT OMIM

More info about CORNELIA DE LANGE SYNDROME 1; CDLS1

Low match MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE; MCPH10

Primary microcephaly-10 (MCPH10) is an autosomal recessive disorder characterized by extremely small head size (-9 SD) at birth and death usually by 1 year of age. Neuropathologic examination shows severe loss of neurons as well as neuronal loss of polarity and abnormal dendritic maturation (summary by Yang et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (OMIM ).

MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE; MCPH10 Is also known as ;microcephalic primordial dwarfism, walsh type

Related symptoms:

  • Autosomal recessive inheritance
  • Microcephaly
  • Micrognathia
  • Cataract
  • Spasticity


SOURCES: OMIM MONDO ORPHANET UMLS

More info about MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE; MCPH10

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES; MRD6

MRD6 is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development and intellectual disability of variable severity. Additional features may include seizures, hypotonia, abnormal movements, such as dystonia, and autistic features. Some patients may have structural malformations of cortical development on brain imaging. The phenotype is highly variable and reflects a spectrum of neurodevelopmental abnormalities that range from mild intellectual disability without seizures to an encephalopathy (summary by Platzer et al., 2017).

Related symptoms:

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


SOURCES: OMIM DOID MONDO UMLS

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES; MRD6

Low match PFEIFFER SYNDROME TYPE 2

Pfeiffer syndrome type 2 (PS2) is a frequent and severe type of Pfeiffer syndrome (PS; see this term), characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hypertelorism
  • Cleft palate


SOURCES: ORPHANET

More info about PFEIFFER SYNDROME TYPE 2

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Choanal atresia

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Anal atresia Common - Between 50% and 80% cases
Cleft palate Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Atrial septal defect

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly

Common Symptoms - More than 50% cases


Cryptorchidism

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment

Common Symptoms - More than 50% cases


Low-set ears

Uncommon Symptoms - Between 30% and 50% cases


Short stature Downslanted palpebral fissures Depressed nasal bridge Autosomal dominant inheritance Generalized hypotonia Hypertelorism Ptosis Micrognathia Behavioral abnormality Feeding difficulties Malar flattening Abnormal heart morphology High palate Inguinal hernia Patent ductus arteriosus Respiratory distress Pica Delayed skeletal maturation Ventricular septal defect Thin upper lip vermilion Growth delay Strabismus Abnormal facial shape Intrauterine growth retardation Short foot Short nose Congenital diaphragmatic hernia Autosomal recessive inheritance Astigmatism Small hand Hypertrichosis Toe syndactyly Hypospadias Prominent nasal bridge Hernia Abnormality of the skeletal system Long philtrum Anteverted nares Craniosynostosis Preauricular skin tag Recurrent respiratory infections Posteriorly rotated ears Overfolded helix Myopia Autistic behavior Pulmonic stenosis Hypoplasia of the corpus callosum Respiratory tract infection Scoliosis Proptosis Conductive hearing impairment Hirsutism Short neck

Rare Symptoms - Less than 30% cases


Neoplasm Dandy-Walker malformation Sensorineural hearing impairment Sacral dimple Wide nasal bridge Cataract Muscular hypotonia Brachycephaly Hypotelorism Ventriculomegaly Smooth philtrum Abnormality of the genital system Hydronephrosis Tapered finger Hypermetropia Joint laxity Bulbous nose Nephrotic syndrome Facial asymmetry Short sternum Polymicrogyria Tics Delayed eruption of teeth Aggressive behavior Small for gestational age Abnormality of the pinna Autism Postnatal growth retardation Severe global developmental delay Synophrys Thick eyebrow Single transverse palmar crease Hypoglycemia Renal hypoplasia Intestinal malrotation Long eyelashes Hemangioma Cutis marmorata Ectopic kidney Dislocated radial head Intellectual disability, severe Abnormality of digit Spasticity Clinodactyly Clinodactyly of the 5th finger Cerebral atrophy Agenesis of corpus callosum Recurrent infections Retrognathia Pes planus Thin vermilion border Recurrent hypoglycemia Short distal phalanx of finger Highly arched eyebrow Sepsis Vomiting Low posterior hairline Recurrent urinary tract infections Coxa valga Auricular tag Short 5th finger Absent fingernail Nystagmus Motor delay Visual impairment Pyloric stenosis High, narrow palate Proximal placement of thumb Short palm Abnormal cardiac septum morphology Telecanthus Feeding difficulties in infancy Abnormality of cardiovascular system morphology Nevus Talipes equinovarus Syndactyly Cloverleaf skull Short metatarsal Bowing of the long bones Cerebellar hypoplasia Delayed myelination Gastroesophageal reflux Mandibular prognathia Severe short stature Depressivity Coloboma Midface retrusion Brachydactyly Failure to thrive Broad neck Underdeveloped nasal alae Bifid uvula Generalized hirsutism Deep philtrum Atresia of the external auditory canal Bicuspid aortic valve Proteinuria Limitation of joint mobility Hyperactivity Glaucoma Pneumonia Thrombocytopenia Broad thumb EEG abnormality Hypertrophic cardiomyopathy Laryngomalacia Hypertonia Cardiomyopathy Arnold-Chiari malformation Increased intracranial pressure Tracheomalacia Sporadic Cleft upper lip Finger syndactyly Vesicoureteral reflux Otitis media Blue sclerae High myopia Spontaneous abortion Webbed neck Sleep disturbance Microcornea Pallor Downturned corners of mouth Pulmonary hypoplasia Renal cyst Micromelia High forehead Optic atrophy Fever Cognitive impairment Anemia Ectopic posterior pituitary Anonychia Partial agenesis of the corpus callosum Wide anterior fontanel Hallux varus Talipes Enlarged cisterna magna Narrow chest Aplasia of the uterus Patellar hypoplasia Rectal prolapse Aplasia/Hypoplasia of the patella Anterior pituitary hypoplasia Gastric ulcer Abnormality of the head Generalized hypertrichosis Hypoplasia of the radius Short distal phalanx of the 5th finger Short hallux Short distal phalanx of the 5th toe Broad hallux phalanx Lumbosacral hirsutism Absent fifth fingernail Prominent interphalangeal joints Hypoplastic fifth fingernail Duodenal ulcer Severe expressive language delay Aqueductal stenosis Premature thelarche Facial hypertrichosis Intussusception Hypotrichosis of the scalp Elbow flexion contracture Torticollis Aspiration Status epilepticus Esophageal stenosis Hypoplastic male external genitalia Projectile vomiting Hypertropia Otitis media with effusion Hypoplastic radial head Malrotation of colon Duplication of internal organs Reduced renal corticomedullary differentiation Abnormality of the umbilicus Dysplastic tricuspid valve Focal seizures with impairment of consciousness or awareness Flexion contracture Cerebellar atrophy Congenital onset Curly eyelashes Profound global developmental delay Intellectual disability, moderate Abnormal neuron morphology Chorea Abnormality of the cerebral cortex Abnormality of the cerebrum Small cerebral cortex Cortical gyral simplification Arthrogryposis multiplex congenita Sloping forehead Hypsarrhythmia Cortical visual impairment Brain atrophy Abnormal cerebellum morphology Gliosis Absent hand Supernumerary ribs Arrhythmia Weak cry Widely spaced teeth Visual loss Abnormality of the urinary system Incoordination Short middle phalanx of finger Hydrocephalus Clubbing 2-3 toe syndactyly Limited elbow extension Self-injurious behavior Opisthotonus Tricuspid regurgitation Cutaneous syndactyly Hypoplastic nipples Ectrodactyly Perimembranous ventricular septal defect Cavernous hemangioma Phocomelia Generalized tonic-clonic seizures with focal onset Peters anomaly Volvulus Hand oligodactyly Aspiration pneumonia Panhypopituitarism Hiatus hernia Esophagitis Thick upper lip vermilion Abnormality of the gastrointestinal tract Optic nerve coloboma Oligodactyly Hypoplastic labia majora Hypopituitarism Cerebellar vermis hypoplasia Precocious puberty Abnormality of the genitourinary system Abnormal bone ossification Unilateral breast hypoplasia Abnormality of thyroid physiology Flared nostrils Abnormal cortical gyration Lower limb asymmetry Broad phalanx Abnormality of the nasopharynx Broad metacarpals Broad metatarsal Renal dysplasia X-linked dominant inheritance Narrow forehead Short palpebral fissure Nasal obstruction Chordee Pseudoarthrosis Broad palm Deeply set eye Attention deficit hyperactivity disorder Increased susceptibility to fractures Blepharophimosis Hyperlordosis Camptodactyly of finger Narrow mouth Renal phosphate wasting Hypophosphatemia Abnormality of the clavicle Shallow orbits Immunodeficiency Broad foot Hypoplastic scapulae Spondyloepimetaphyseal dysplasia Hip dysplasia Prominent nose Joint hyperflexibility Skin tags Underdeveloped tragus Morphological abnormality of the middle ear Mandibulofacial dysostosis Accessory oral frenulum Tracheoesophageal fistula Moderate global developmental delay Large earlobe Preaxial hand polydactyly Glossoptosis Abnormality of the antihelix Pierre-Robin sequence Esophageal atresia Stenosis of the external auditory canal Slender finger Absent tragus Abnormality of the outer ear Postaxial polydactyly Microtia Unerupted tooth Multiple unerupted teeth Epicanthus Upslanted palpebral fissure Absent speech Hip dislocation Hypoplasia of the maxilla Trigonocephaly Polydactyly Prominent forehead Postnatal microcephaly Progressive microcephaly Pes cavus Abnormality of the dentition Radioulnar synostosis Broad forehead Failure to thrive in infancy Elevated alkaline phosphatase Median cleft palate Thick vermilion border Wide nose Eyelid coloboma Asplenia Short columella Velopharyngeal insufficiency Short philtrum Eczema Upper eyelid coloboma Wide mouth Frontal bossing Umbilical hernia Abdominal pain Coarse facial features Broad nasal tip Prominent metopic ridge Kyphosis Hypotrichosis Cupped ear Spina bifida occulta Accelerated skeletal maturation Bilateral talipes equinovarus Low anterior hairline Small nail Sparse scalp hair Tetralogy of Fallot Tall stature Abnormal renal morphology Decreased fetal movement Long fingers Confusion Growth hormone deficiency Thick lower lip vermilion Dilatation Pain Hypoplastic toenails Limb undergrowth Aortic aneurysm Oculomotor apraxia Aortic regurgitation Sandal gap Pointed chin Abnormal form of the vertebral bodies Short phalanx of finger Narrow palpebral fissure Premature birth Rhizomelia Plagiocephaly Arachnodactyly Reduced number of teeth Long face Metaphyseal dysplasia Short metacarpal Anal stenosis Protruding ear Interrupted aortic arch Branchial fistula Bilateral choanal atresia Absent toenail Platyspondyly Abnormality of earlobe Ankyloglossia Recurrent bronchitis Language impairment Truncus arteriosus Choanal stenosis Bronchitis Inverted nipples Ulnar deviation of finger Obsessive-compulsive behavior Bowel incontinence Deviation of the thumb


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