Delayed speech and language development, and Microtia

Diseases related with Delayed speech and language development and Microtia

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


Top matches:

Medium match SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2; CSCSC2

Congenital symmetric circumferential skin creases is characterized by the folding of excess skin, which leads to ringed creases, primarily of the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features (summary by Isrie et al., 2015).For a discussion of genetic heterogeneity of congenital symmetric circumferential skin creases, see CSCSC1 (OMIM ).

Related symptoms:

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


SOURCES: UMLS MONDO OMIM

More info about SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2; CSCSC2

Medium match WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME; WTS

Wilson-Turner syndrome is an X-linked recessive neurologic disorder characterized by intellectual disability, dysmorphic facial features, hypogonadism, short stature, and truncal obesity. Females are unaffected (Wilson et al., 1991).

WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME; WTS Is also known as mental retardation, x-linked, syndromic 6;mrxs6, mental retardation, x-linked, with gynecomastia and obesity;wts; x-linked intellectual disability-gynecomastia-obesity syndrome

Related symptoms:

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


SOURCES: DOID ORPHANET MONDO OMIM MESH SCTID GARD UMLS

More info about WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME; WTS

Medium match SPONDYLOEPIMETAPHYSEAL DYSPLASIA, FADEN-ALKURAYA TYPE; SEMDFA

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, FADEN-ALKURAYA TYPE; SEMDFA Is also known as spondyloepimetaphyseal dysplasia, progressive, with short stature, facial dysmorphism, short fourth metatarsals, and mental retardation, with or without craniosynostosis;

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET UMLS OMIM MONDO

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA, FADEN-ALKURAYA TYPE; SEMDFA

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Other less relevant matches:

Medium match MEIER-GORLIN SYNDROME 3; MGORS3

Related symptoms:

  • Autosomal recessive inheritance
  • Short stature
  • Microcephaly
  • Growth delay
  • Micrognathia


SOURCES: MONDO UMLS OMIM

More info about MEIER-GORLIN SYNDROME 3; MGORS3

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 1; MRD1

Related symptoms:

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


SOURCES: DOID MONDO NCIT MESH UMLS OMIM

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 1; MRD1

Medium match ASPARTYLGLUCOSAMINURIA

Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis).

ASPARTYLGLUCOSAMINURIA Is also known as aspartylglucosaminidase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET SCTID

More info about ASPARTYLGLUCOSAMINURIA

Medium match ABLEPHARON-MACROSTOMIA SYNDROME; AMS

Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome (see this term).

ABLEPHARON-MACROSTOMIA SYNDROME; AMS Is also known as ;

Related symptoms:

  • Autosomal recessive inheritance
  • Autosomal dominant inheritance
  • Global developmental delay
  • Hearing impairment
  • Microcephaly


SOURCES: SCTID MONDO GARD MESH OMIM UMLS ORPHANET DOID

More info about ABLEPHARON-MACROSTOMIA SYNDROME; AMS

Medium match MEIER-GORLIN SYNDROME 6; MGORS6

Related symptoms:

  • Autosomal dominant inheritance
  • Global developmental delay
  • Hearing impairment
  • Micrognathia
  • Strabismus


SOURCES: UMLS MONDO OMIM

More info about MEIER-GORLIN SYNDROME 6; MGORS6

Medium match HELSMOORTEL-VAN DER AA SYNDROME; HVDAS

HELSMOORTEL-VAN DER AA SYNDROME; HVDAS Is also known as mental retardation, autosomal dominant 28;mrd28;

Related symptoms:

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


SOURCES: MONDO GARD DOID OMIM ORPHANET UMLS

More info about HELSMOORTEL-VAN DER AA SYNDROME; HVDAS

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

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

Symptoms // Phenotype % cases
Microcephaly Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Short nose Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Intellectual disability

Uncommon Symptoms - Between 30% and 50% cases


Cryptorchidism

Common Symptoms - More than 50% cases


Autosomal dominant inheritance

Uncommon Symptoms - Between 30% and 50% cases


Abnormal facial shape

Common Symptoms - More than 50% cases


Seizures

Uncommon Symptoms - Between 30% and 50% cases


Delayed skeletal maturation Motor delay Feeding difficulties Low-set ears Downslanted palpebral fissures Gastroesophageal reflux Depressed nasal bridge Ptosis Strabismus Autosomal recessive inheritance Generalized hypotonia Hearing impairment Hypertelorism Failure to thrive Visual impairment Hypoplasia of the maxilla Wide nasal bridge Hypermetropia Small hand Thick vermilion border Umbilical hernia Thin upper lip vermilion Autistic behavior Growth delay Anteverted nares Pes planus Short palm Midface retrusion Hernia Malar flattening Short neck Posteriorly rotated ears Epicanthus Cleft palate

Rare Symptoms - Less than 30% cases


Sandal gap Widely spaced teeth Beaking of vertebral bodies Short chin Hypospadias Language impairment Slender long bone Tented upper lip vermilion Coxa vara Severe short stature Short metacarpal Autism Intrauterine growth retardation Patellar aplasia Feeding difficulties in infancy Stenosis of the external auditory canal Behavioral abnormality Wide mouth Frontal bossing Myopia Broad forehead Bronchomalacia Abnormality of cardiovascular system morphology Breast hypoplasia Respiratory distress Talipes equinovarus Delayed myelination Tracheomalacia Absent speech Abnormal heart morphology Laryngomalacia Microretrognathia Astigmatism Sleep disturbance Conductive hearing impairment Coloboma Thick lower lip vermilion Hyperlordosis Scoliosis Microdontia Micropenis Coarse facial features Retrognathia Abnormality of the outer ear Neurological speech impairment Cataract Muscular hypotonia Delayed puberty Thick eyebrow Short foot Overfolded helix Obesity Scrotal hypoplasia Atresia of the external auditory canal Tapered finger Carious teeth Underdeveloped nasal alae Abnormality of finger Inguinal hernia Abnormality of the pinna Upslanted palpebral fissure Osteopenia Recurrent respiratory infections Narrow mouth Respiratory tract infection Short phalanx of finger Cutis laxa Hypertrichosis Growth hormone deficiency Small for gestational age Abnormality of skin pigmentation Single transverse palmar crease Hypoplasia of penis Lumbar hyperlordosis Omphalocele Fine hair Thin skin Ambiguous genitalia Hip dysplasia Depressed nasal ridge Hypoplasia of eyelid Sacral dimple Absent nipple Abnormal hair pattern Aplasia/Hypoplasia of the nipples Labial hypoplasia High-frequency hearing impairment Absent eyelashes Hypoplasia of the zygomatic bone Corneal erosion Shallow orbits Conical tooth Hypoplastic nipples Excessive wrinkled skin Overbite Abnormal nasal morphology Abnormality of the mouth Redundant skin Absent eyebrow Short upper lip Sparse eyebrow Cutaneous syndactyly Abnormality of female external genitalia Cryptophthalmos Absent hair Ablepharon Microtia, third degree Ectropion Dry skin Ventral hernia Long uvula Dental malocclusion Joint hypermobility Short middle phalanx of finger Choanal atresia Radioulnar synostosis Deep philtrum Bicuspid aortic valve Preauricular skin tag Progressive microcephaly Postnatal microcephaly Bifid uvula Preaxial hand polydactyly Pulmonic stenosis Abnormal cardiac septum morphology Anal atresia Telecanthus Patent ductus arteriosus Atrial septal defect Trigonocephaly Tracheoesophageal fistula Nevus Skin tags Underdeveloped tragus Morphological abnormality of the middle ear Mandibulofacial dysostosis Accessory oral frenulum Auricular tag Moderate global developmental delay Large earlobe Proximal placement of thumb Glossoptosis Abnormality of the antihelix Pierre-Robin sequence Esophageal atresia Slender finger Abnormal renal morphology Ventricular septal defect Cyanotic episode Emphysema Recurrent infections Anxiety Neonatal hypotonia Joint laxity Muscular hypotonia of the trunk Hyperactivity Prominent forehead Infantile onset Smooth philtrum Nasogastric tube feeding Tracheobronchomalacia Subglottic stenosis Entropion Hypoplastic labia majora Cortical gyral simplification Attention deficit hyperactivity disorder Iris coloboma Generalized neonatal hypotonia Plagiocephaly Juvenile cataract Eyelid coloboma Inverted nipples Long palpebral fissure Obsessive-compulsive behavior Bilateral ptosis Amblyopia Toe syndactyly Stereotypy Exotropia Cortical visual impairment Sparse scalp hair Broad thumb Hirsutism Thin vermilion border Absence seizures Corneal opacity Proximal femoral epiphysiolysis Platyspondyly Metaphyseal dysplasia Increased body weight Short femoral neck Femoral bowing Overlapping toe Delayed epiphyseal ossification Thoracolumbar scoliosis Lumbar scoliosis Spondyloepimetaphyseal dysplasia Small epiphyses Narrow pelvis bone Short fourth metatarsal Skull asymmetry Skeletal dysplasia Distal femoral bowing Thoracic platyspondyly Dyspnea Prominent nasal bridge Narrow chest Triangular face Recurrent pneumonia Short ribs Coxa valga Genu varum Clitoral hypertrophy Growth abnormality Short thorax Thoracic hypoplasia Craniosynostosis Short ear Calvarial skull defect X-linked recessive inheritance Pica Hypoplasia of the corpus callosum Microphthalmia Pectus excavatum Blepharophimosis Flat face Microcornea Wide intermamillary distance Short palpebral fissure Broad neck Ureterocele Coma Kyphosis Pes cavus Brachycephaly Malar prominence Hypogonadism Deeply set eye Poor speech Decreased testicular size Broad nasal tip Specific learning disability X-linked dominant inheritance Gynecomastia Hypogonadotrophic hypogonadism Emotional lability Prominent supraorbital ridges Decreased muscle mass Truncal obesity Misalignment of teeth Severe postnatal growth retardation Aplasia/Hypoplasia of the patella Camptodactyly Thickened calvaria Abnormality of lower lip Hepatomegaly Splenomegaly Abnormality of the dentition Mandibular prognathia Arthritis Joint stiffness Pectus carinatum Malabsorption Macroglossia Dyskinesia Gingival overgrowth Abnormal vertebral morphology Chronic otitis media Macroorchidism Short attention span Abnormality of the ulna Abnormal cortical bone morphology Large face Vascular skin abnormality Abnormality of amino acid metabolism Anterior beaking of lumbar vertebrae Aspartylglucosaminuria Cognitive impairment Flexion contracture Syndactyly Abnormality of the genital system Camptodactyly of finger Finger syndactyly Sparse hair Hemifacial hypoplasia Polyphagia Birth length less than 3rd percentile Bulbous nose Absent sternal ossification Ataxia Fever Intellectual disability, severe Vomiting Clinodactyly of the 5th finger Encephalopathy Clinodactyly Gait ataxia EEG abnormality Aggressive behavior Protruding ear Postnatal growth retardation Facial asymmetry Everted lower lip vermilion Self-injurious behavior Downturned corners of mouth Highly arched eyebrow Focal seizures Esotropia Febrile seizures Prominent nose Open mouth Epileptic encephalopathy Dental crowding Low anterior hairline Finger clinodactyly Focal seizures with impairment of consciousness or awareness Cupped ear Infantile muscular hypotonia Absent tragus



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