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  3. Delayed speech and language development and Posteriorly rotated ears, related diseases and genetic alterations 
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Delayed speech and language development, and Posteriorly rotated ears

Diseases related with Delayed speech and language development and Posteriorly rotated ears

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


Top matches:

Medium match FACIAL PARESIS, HEREDITARY CONGENITAL, 3; HCFP3

Related symptoms:

  • Autosomal recessive inheritance
  • Hearing impairment
  • Micrognathia
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: MONDO UMLS OMIM

More info about FACIAL PARESIS, HEREDITARY CONGENITAL, 3; HCFP3

Medium match CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA; CCAFCA

CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA; CCAFCA Is also known as birk-flusser syndrome;

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Ataxia


SOURCES: ORPHANET MONDO UMLS OMIM

More info about CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA; CCAFCA

Medium match CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER; CHDFIDD

Related symptoms:

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


SOURCES: UMLS MONDO OMIM

More info about CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER; CHDFIDD

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Other less relevant matches:

Medium match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61; MRT61

MRT61 is an autosomal recessive neurodevelopmental disorder characterized by delayed psychomotor development, moderate to severe intellectual disability, and variable dysmorphic facial features. More severely affected patients may develop refractory seizures and have brain abnormalities, including hypoplasia of the corpus callosum (summary by Alwadei et al., 2016).

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61; MRT61 Is also known as alwadei syndrome

Related symptoms:

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


SOURCES: UMLS MONDO OMIM DOID

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61; MRT61

Medium match INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD; IDDGIP

IDDGIP is an autosomal dominant syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with speech delay, and behavioral abnormalities. Most patients have variable additional features, including feeding and gastrointestinal difficulties, high pain threshold and/or hypersensitivity to sound, and dysmorphic features, including mild facial abnormalities, strabismus, and small hands and feet (summary by Jansen et al., 2017).

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: MONDO OMIM UMLS

More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD; IDDGIP

Medium match CK SYNDROME

CK syndrome (CKS) is an X-linked recessive disorder characterized by mild to severe cognitive impairment, seizures, microcephaly, cerebral cortical malformations, dysmorphic facial features, and thin body habitus. It is named after the first identified patient (summary by McLarren et al., 2010).CHILD syndrome (OMIM ) is an allelic disorder with a different phenotype.

CK SYNDROME Is also known as mental retardation, x-linked, with thin body habitus and cortical malformation;x-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome

Related symptoms:

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


SOURCES: OMIM UMLS ORPHANET MONDO

More info about CK SYNDROME

Medium match SHASHI-PENA SYNDROME; SHAPNS

Shashi-Pena syndrome is a neurodevelopmental syndrome characterized by delayed psychomotor development, variable intellectual disability, hypotonia, facial dysmorphism, and some unusual features, including enlarged head circumference, glabellar nevus flammeus, and deep palmar creases. Some patients may also have atrial septal defect, episodic hypoglycemia, changes in bone mineral density, and/or seizures (summary by Shashi et al., 2016).

Related symptoms:

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


SOURCES: OMIM MONDO UMLS

More info about SHASHI-PENA SYNDROME; SHAPNS

Medium match DESANTO-SHINAWI SYNDROME; DESSH

DeSanto-Shinawi syndrome is a rare neurodevelopmental disorder characterized by global developmental delay apparent in infancy or early childhood and associated with characteristic dysmorphic facial features, such as broad forehead, depressed nasal bridge with bulbous nasal tip, and deep-set eyes. Most patients also have gastrointestinal and mild ocular abnormalities, as well as behavioral problems (summary by DeSanto et al., 2015).

DESANTO-SHINAWI SYNDROME; DESSH Is also known as developmental delay, behavioral abnormalities, facial dysmorphism, and ocular abnormalities;

Related symptoms:

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


SOURCES: OMIM ORPHANET UMLS

More info about DESANTO-SHINAWI SYNDROME; DESSH

Medium match SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES; SHRF

SHRF is an autosomal recessive disorder characterized by short stature, brachydactyly, dysmorphic facial features, hearing loss, and visual impairment. Onset of the hearing and visual abnormalities, including retinitis pigmentosa, varies from birth to the second decade. Patients have mild intellectual disability and mild cerebellar atrophy with myelination defects on brain imaging (summary by Di Donato et al., 2016).

SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES; SHRF Is also known as ;retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Nystagmus


SOURCES: OMIM ORPHANET

More info about SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES; SHRF

Medium 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 Posteriorly rotated ears

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Strabismus Common - Between 50% and 80% cases
Low-set ears Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Feeding difficulties Hypertelorism Seizures Myopia Anteverted nares Long face Autosomal dominant inheritance Microcephaly Thin upper lip vermilion Scoliosis Hyperactivity Upslanted palpebral fissure Autosomal recessive inheritance Thick eyebrow Aggressive behavior Hearing impairment Atrial septal defect Pica Epicanthus Ptosis Hyperlordosis Sensorineural hearing impairment Kyphosis

Rare Symptoms - Less than 30% cases


Anxiety Macrocephaly Slender build Oxycephaly Proptosis Sleep disturbance Broad nasal tip Ventriculomegaly Joint hypermobility High forehead Prominent nasal bridge Retrognathia Mandibular prognathia Cerebellar atrophy Malar flattening Joint laxity Synophrys Bulbous nose High palate Short stature Broad forehead Abnormal facial shape Brachydactyly Attention deficit hyperactivity disorder Behavioral abnormality Prominent forehead Constipation Infantile onset Spasticity Long eyelashes Micrognathia Midface retrusion Hypermetropia Cerebellar hypoplasia Agenesis of corpus callosum Absent speech Highly arched eyebrow Hirsutism Poor speech Abnormal cerebellum morphology Sparse hair Hypothyroidism Long foot Brachycephaly Hypoplasia of the corpus callosum Overgrowth Large hands Sparse eyebrow Long fingers Short neck Depressed nasal bridge Capillary malformation Deep palmar crease Nevus flammeus Reduced bone mineral density Disproportionate tall stature Megalencephaly Accelerated skeletal maturation Frontal bossing Communicating hydrocephalus Long neck Febrile seizures Expressive language delay Wide nasal base Recurrent fractures Hypoglycemia Feeding difficulties in infancy Metopic synostosis Thick corpus callosum Downslanted palpebral fissures Osteoporosis Abnormality of the skeletal system Broad distal phalanx of finger Tall stature Congenital hypothyroidism Gait ataxia Nystagmus Diabetes mellitus Glaucoma Macrotia Cerebral cortical atrophy Rod-cone dystrophy Coma Long philtrum Short nose Pes planus Kyphoscoliosis Difficulty walking Hypertension Arachnodactyly Congenital onset Broad thumb Progressive hearing impairment Inverted nipples Hydrocephalus Corneal dystrophy Agitation Full cheeks Astigmatism Downturned corners of mouth Deeply set eye Triangular face Broad columella Abnormality of the pinna High myopia Lumbar hyperlordosis Coarse facial features Delayed myelination Gastroesophageal reflux Nevus Nonprogressive cerebellar ataxia Low anterior hairline Aplasia/Hypoplasia of the corpus callosum Partial agenesis of the corpus callosum Palpebral edema Limb hypertonia Congenital microcephaly Upper eyelid edema Narrow forehead Wide nasal bridge Ventricular septal defect Abnormality of cardiovascular system morphology Clinodactyly Narrow mouth Abnormal heart morphology Cerebellar vermis hypoplasia Thick lower lip vermilion Camptodactyly High-frequency hearing impairment Facial palsy Smooth philtrum Esotropia High hypermetropia Facial diplegia Nonprogressive Esophoria Everted lower lip vermilion Accommodative esotropia Ataxia Growth delay Intellectual disability, severe Hypertonia Protruding ear Low-set, posteriorly rotated ears Short philtrum Mild microcephaly Almond-shaped palpebral fissure Obsessive-compulsive behavior Wide mouth Autistic behavior Short foot Small hand Small nail Broad-based gait X-linked recessive inheritance Vomiting Irritability Polymicrogyria Pachygyria Dental crowding Narrow face Abnormality of digit Abnormal cortical bone morphology Autism Fever Periventricular leukomalacia Babinski sign Small cerebral cortex Aplasia of the inferior half of the cerebellar vermis Hyperreflexia Talipes equinovarus Arrhythmia Pes cavus Muscular hypotonia of the trunk Pain Dolichocephaly Talipes Unsteady gait Brain atrophy Prominent nose Hypsarrhythmia Progressive microcephaly Severe expressive language delay


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