Delayed speech and language development, and Conductive hearing impairment
Diseases related with Delayed speech and language development and Conductive hearing impairment
In the following list you will find some of the most common rare diseases related to Delayed speech and language development and Conductive hearing impairment that can help you solving undiagnosed cases.
Top matches:
Medium match DEAFNESS, AUTOSOMAL RECESSIVE 84A; DFNB84A
DEAFNESS, AUTOSOMAL RECESSIVE 84A; DFNB84A Is also known as deafness, autosomal recessive 84;dfnb84, deafness, autosomal recessive 84a, with vestibular dysfunction
Related symptoms:
- Autosomal recessive inheritance
- Hearing impairment
- Sensorineural hearing impairment
- Motor delay
- Infantile onset
More info about DEAFNESS, AUTOSOMAL RECESSIVE 84A; DFNB84A
Low match AURAL ATRESIA, CONGENITAL; CAA
Altmann (1955) was the first to describe a congenital aural atresia (CAA) classification, which has been modified over the years (Cremers et al., 1988; Schuknecht, 1989; Jahrsdoerfer et al., 1992). In CAA type I, there is bony or fibrous atresia of the lateral part of the external auditory canal and an almost normal medial part and middle ear. CAA type II is the most frequent type and is characterized by partial or total aplasia of the external auditory canal. CAA type IIA involves an external auditory canal with either complete bony atresia of the medial part or partial aplasia that ends blindly in a fistula leading to a rudimentary tympanic membrane. CAA type IIB is characterized by bony stenosis of the total length of the external auditory canal. CAA type III involves bony atresia of the external auditory canal and a very small or absent middle-ear cavity (summary by Feenstra et al., 2011).
AURAL ATRESIA, CONGENITAL; CAA Is also known as aural atresia, congenital, with hyposmia
Related symptoms:
- Autosomal dominant inheritance
- Hearing impairment
- Delayed speech and language development
- Conductive hearing impairment
- Atresia of the external auditory canal
More info about AURAL ATRESIA, CONGENITAL; CAA
Low match WEISSENBACHER- ZWEYMULLER SYNDROME
Weissenbacher-Zweymuller syndrome (WZS) is characterized by short stature at birth, neonatal micrognathia, cleft palate, rhizomelic chondrodysplasia with 'dumbbell' shaped arm and leg bones, hypertelorism and vertebral coronal clefts.
WEISSENBACHER- ZWEYMULLER SYNDROME Is also known as heterozygous osmed; heterozygous otospondylomegaepiphyseal dysplasia; pierre robin sequence-fetal chondrodysplasia syndrome; pierre robin syndrome-fetal chondrodysplasia syndrome
Related symptoms:
- Hypertelorism
- Micrognathia
- Muscular hypotonia
- Cleft palate
- Depressed nasal bridge
SOURCES: MESH GARD UMLS ORPHANET SCTID MONDO DOID
More info about WEISSENBACHER- ZWEYMULLER SYNDROME
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Other less relevant matches:
Low match MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS; MFHIEN
Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis is an X-linked recessive disorder with onset of features in early childhood. Anemia is sometimes present. Some patients may show mild early motor or speech delay, but cognition is normal (summary by Andreoletti et al., 2017).
Related symptoms:
- Intellectual disability
- Short stature
- Generalized hypotonia
- Hearing impairment
- Micrognathia
More info about MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS; MFHIEN
Low match MEIER-GORLIN SYNDROME 6; MGORS6
Related symptoms:
- Autosomal dominant inheritance
- Global developmental delay
- Hearing impairment
- Micrognathia
- Strabismus
More info about MEIER-GORLIN SYNDROME 6; MGORS6
Low match CARDIOSPONDYLOCARPOFACIAL SYNDROME; CSCF
Cardiospondylocarpofacial syndrome is characterized by mitral insufficiency, conductive deafness, short stature, and skeletal anomalies (bony fusion involving the cervical vertebrae, the ossicles, and the carpal and tarsal bones). It has been described in three members of one family. The mode of inheritance is likely to be autosomal dominant with incomplete penetrance.
CARDIOSPONDYLOCARPOFACIAL SYNDROME; CSCF Is also known as mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones;forney syndrome; forney-robinson-pascoe syndrome; mitral regurgitation-deafness-skeletal anomalies syndrome
Related symptoms:
- Autosomal dominant inheritance
- Short stature
- Generalized hypotonia
- Hearing impairment
- Scoliosis
SOURCES: GARD UMLS MESH OMIM SCTID ORPHANET MONDO
More info about CARDIOSPONDYLOCARPOFACIAL SYNDROME; CSCFLow 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; MFDGALow match ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS1
Acrodysostosis-1 is a form of skeletal dysplasia characterized by short stature, severe brachydactyly, facial dysostosis, and nasal hypoplasia. Affected individuals often have advanced bone age and obesity. Laboratory studies show resistance to multiple hormones, including parathyroid, thyrotropin, calcitonin, growth hormone-releasing hormone, and gonadotropin (summary by Linglart et al., 2011). However, not all patients show endocrine abnormalities (Lee et al., 2012).
ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS1 Is also known as adohr
Related symptoms:
- Autosomal dominant inheritance
- Intellectual disability
- Short stature
- Hearing impairment
- Scoliosis
More info about ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS1
Low match COFFIN-SIRIS SYNDROME 6; CSS6
Coffin-Siris syndrome-6 is characterized by short stature, sparse hair, mild to severe intellectual disability, coarse facial features, and variable behavioral anomalies. Some patients have fifth digit clinodactyly with small nails. Other congenital anomalies and seizures may be present. This description is based on reports of 7 unrelated patients (Shang et al., 2015; Van Paemel et al., 2017; Bramswig et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).
Related symptoms:
- Autosomal dominant inheritance
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
More info about COFFIN-SIRIS SYNDROME 6; CSS6
Low match SMITH-MAGENIS SYNDROME; SMS
SMITH-MAGENIS SYNDROME; SMS Is also known as chromosome 17p11.2 deletion syndrome
Related symptoms:
- Autosomal dominant inheritance
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
SOURCES: OMIM NCIT MONDO GARD ICD10 DOID
More info about SMITH-MAGENIS SYNDROME; SMSTop 5 symptoms//phenotypes associated to Delayed speech and language development and Conductive hearing impairment
| Symptoms // Phenotype | % cases |
|---|---|
| Hearing impairment | Very Common - Between 80% and 100% cases |
| Autosomal dominant inheritance | Common - Between 50% and 80% cases |
| Midface retrusion | Common - Between 50% and 80% cases |
| Short stature | Common - Between 50% and 80% cases |
| Cleft palate | Common - Between 50% and 80% cases |
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Other less frequent symptoms
Patients with Delayed speech and language development and Conductive hearing impairment. may also develop some of the following symptoms:
Uncommon Symptoms - Between 30% and 50% cases
Intellectual disability Micrognathia Downslanted palpebral fissures Hypertelorism Global developmental delay Anteverted nares Depressed nasal bridge Scoliosis Growth delay Generalized hypotonia Strabismus Abnormal facial shape Short nose Malar flattening Feeding difficulties Posteriorly rotated ears Delayed skeletal maturation Delayed eruption of teeth Microtia Gastroesophageal reflux Cryptorchidism Clinodactyly Failure to thrive Seizures Short palm Brachydactyly Stenosis of the external auditory canal Epicanthus Motor delay Hyperactivity
Rare Symptoms - Less than 30% cases
Intrauterine growth retardation Finger clinodactyly Broad palm Constipation Bifid uvula Autosomal recessive inheritance Frontal bossing Short middle phalanx of finger Upslanted palpebral fissure Abnormality of the dentition Long philtrum Wide nasal bridge Short foot High, narrow palate Short phalanx of finger Hernia Stereotypy Hip dysplasia Delayed myelination Thick vermilion border Single transverse palmar crease Severe short stature Atrial septal defect Esotropia Abnormality of cardiovascular system morphology Deep philtrum Talipes equinovarus Short neck Hypoplasia of the maxilla Mandibular prognathia Brachycephaly Glossoptosis Attention deficit hyperactivity disorder Patent ductus arteriosus Abnormality of the outer ear Myopia Morphological abnormality of the middle ear Abnormal renal morphology Atresia of the external auditory canal Sensorineural hearing impairment Clinodactyly of the 5th finger Telecanthus Small hand Thin upper lip vermilion Absent speech Synophrys Abnormal heart morphology Pes planus Mixed hearing impairment Disproportionate short-limb short stature Dextrocardia Mild postnatal growth retardation Neonatal epiphyseal stippling Pica Tics Hypoplasia of the corpus callosum Pectus excavatum Underdeveloped tragus Absent tragus Calvarial hyperostosis Inguinal hernia Epiphyseal stippling Melanocytic nevus Mandibulofacial dysostosis Short metatarsal Accessory oral frenulum Auricular tag Narrow vertebral interpedicular distance Thyroid hypoplasia Short metacarpal Accelerated skeletal maturation Mild short stature Hypothyroidism Hypogonadism Dental malocclusion Spinal canal stenosis Cone-shaped epiphyses of the phalanges of the hand Blue irides Dislocated radial head Menstrual irregularities Milia Hypodontia Open mouth Hydrocephalus Constrictive median neuropathy Optic atrophy Long hallux Hypoplastic vertebral bodies Broad nasal tip Elevated circulating parathyroid hormone level Infantile spasms Retrognathia Abnormality of the immune system Intellectual disability, moderate Sporadic Deeply set eye Abnormality of the kidney Dry skin Retinal detachment Sleep disturbance Oral cleft Hypertriglyceridemia Hypoplasia of dental enamel Hoarse voice Hypercholesterolemia Abnormality of the urinary system Mania Abnormality of the genital system Self-injurious behavior Abnormality of the thyroid gland Impaired pain sensation Self-mutilation Abnormality of the larynx Broad face Everted upper lip vermilion Velopharyngeal insufficiency Recurrent ear infections Hyperacusis Premature atrial contractions Abnormal tracheobronchial morphology Abnormality of the forearm EEG abnormality Pes cavus Prominent forehead Plagiocephaly Coarse facial features High forehead Kyphoscoliosis Aggressive behavior Wide mouth Anxiety Low-set, posteriorly rotated ears Short distal phalanx of finger Tapered finger Thick lower lip vermilion Sparse scalp hair Small nail Wormian bones Abnormality of the hand Areflexia Skin tags Arachnoid cyst High anterior hairline Periventricular leukomalacia Diaphragmatic eventration Testicular torsion Small toe Peripheral neuropathy Pain Ventriculomegaly Behavioral abnormality Hyporeflexia Obesity Moderate global developmental delay Failure of eruption of permanent teeth Large earlobe Umbilical hernia Dental crowding Nephrocalcinosis Calcinosis Patent foramen ovale Hypercalciuria Severe sensorineural hearing impairment Large forehead Elliptocytosis Broad distal phalanx of finger Cleft hard palate Recurrent respiratory infections Respiratory tract infection Joint hypermobility Hyperlordosis Small for gestational age Delayed puberty Underdeveloped nasal alae Growth hormone deficiency Lumbar hyperlordosis Depressed nasal ridge Microretrognathia Sandal gap Laryngomalacia Emphysema Renal dysplasia Flat face Tracheomalacia Delayed gross motor development Infantile onset Vestibular dysfunction Hyposmia Bilateral conductive hearing impairment Hypoplasia of the olfactory bulb Congenital conductive hearing impairment Muscular hypotonia Proptosis Muscular hypotonia of the trunk Rhizomelia Metaphyseal widening Short femur Thin vermilion border Coronal cleft vertebrae Abnormality of the mandible Submucous cleft soft palate Mild neurosensory hearing impairment Cataract Anemia X-linked recessive inheritance Narrow mouth Hydronephrosis Nephrotic syndrome Broad forehead Talipes Cortical gyral simplification Hypoplastic labia majora Abnormality of the antihelix Choanal atresia Microcephaly Ptosis Low-set ears Nevus Ventricular septal defect Respiratory distress Feeding difficulties in infancy Anal atresia Coloboma Abnormal cardiac septum morphology Pulmonic stenosis Postnatal microcephaly Pseudoepiphyses Progressive microcephaly Preauricular skin tag Bicuspid aortic valve Radioulnar synostosis Trigonocephaly Overfolded helix Preaxial hand polydactyly Tracheoesophageal fistula Proximal placement of thumb Slender finger Esophageal atresia Pierre-Robin sequence Synostosis of carpals/tarsals Delayed ossification of carpal bones Patellar aplasia Mitral valve prolapse Entropion Bronchomalacia Subglottic stenosis Tracheobronchomalacia Nasogastric tube feeding Joint laxity Postnatal growth retardation Abnormality of the eye Vesicoureteral reflux Decreased testicular size Full cheeks Abnormal form of the vertebral bodies Fused cervical vertebrae Recurrent otitis media Mitral regurgitation Horseshoe kidney Cone-shaped epiphysis Tarsal synostosis Congenital sensorineural hearing impairment Freckling Synostosis of carpal bones Carpal synostosis Severe failure to thrive Misalignment of teeth Rib fusion Head-banging
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