Abnormal facial shape, and Delayed speech and language development

Diseases related with Abnormal facial shape and Delayed speech and language development

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


Top matches:

Medium match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6; MRT6


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Abnormal facial shape
  • Cognitive impairment


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6; MRT6

Low match SPECIFIC LANGUAGE IMPAIRMENT 5; SLI5


Specific language impairment-5 is characterized by a delay in early speech acquisition and is usually associated with cerebral white matter abnormalities on brain MRI. Some individuals may show disorders in communication, consistent with autism spectrum disorder, or global developmental delay, although others ultimately show normal cognitive function. Penetrance is incomplete and expressivity is variable. This type of disorder is observed most commonly among individuals of East Asian descent (summary by Wiszniewski et al., 2013).For a phenotypic description and a discussion of genetic heterogeneity of specific language impairment, see SLI1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Abnormal facial shape
  • Delayed speech and language development
  • Autism
  • Autistic behavior


SOURCES: OMIM MENDELIAN

More info about SPECIFIC LANGUAGE IMPAIRMENT 5; SLI5

Low match MENTAL RETARDATION, X-LINKED 97; MRX97


MENTAL RETARDATION, X-LINKED 97; MRX97 Is also known as mental retardation, x-linked 65|mrx65|mrxz

Related symptoms:

  • Intellectual disability
  • Delayed speech and language development
  • Motor delay
  • Prominent forehead
  • Macrotia


SOURCES: MESH OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 97; MRX97

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Other less relevant matches:

Low match MENTAL RETARDATION, X-LINKED 101; MRX101


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 101; MRX101

Low match MENTAL RETARDATION, X-LINKED 19; MRX19


X-linked mental retardation-19 (MRX19) is a nonsyndromic form of mild to moderate mental retardation. Carrier females may be mildly affected. Mutation in the RPS6KA3 gene also causes Coffin-Lowry syndrome (CLS ), a mental retardation syndrome with dysmorphic facial features and skeletal anomalies. Some patients with RPS6KA3 mutations have an intermediate phenotype with mental retardation and only mild anomalies reminiscent of CLS. These individuals have mutations resulting in some residual protein function, which likely explains the milder phenotype (summary by Field et al., 2006).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 19; MRX19

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 50; MRD50


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 50; MRD50

Low match GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11; GPIBD11


GPIBD11 is an autosomal recessive disorder characterized by neonatal hypotonia, lack of psychomotor development, and variable seizures. Some patients may have dysmorphic features or increased serum alkaline phosphatase. The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis (summary by Hogrebe et al., 2016).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11; GPIBD11 Is also known as hyperphosphatasia with mental retardation syndrome 5|hpmrs5

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11; GPIBD11

Low match OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY; OBHD


OBHD is a neurodevelopmental disorder characterized by global developmental delay and hyperphagia resulting in obesity. Some patients may develop seizures (summary by Hamdan et al., 2017).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Growth delay
  • Delayed speech and language development


SOURCES: MESH OMIM MENDELIAN

More info about OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY; OBHD

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 30; MRD30


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 30; MRD30

Low match MENTAL RETARDATION, X-LINKED 103; MRX103


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Cryptorchidism
  • Ventriculomegaly


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 103; MRX103

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Delayed speech and language development

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Autistic behavior Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Motor delay Autism Absent speech

Rare Symptoms - Less than 30% cases


Long face Aggressive behavior Coarse facial features Intellectual disability, mild Hypertelorism Ventriculomegaly Wide mouth Short stature Hyperactivity Growth delay Poor speech Intellectual disability, moderate Macrotia Prominent forehead Poor eye contact Hypoplasia of the corpus callosum Obesity Severe global developmental delay Facial asymmetry Unsteady gait Delayed myelination Generalized-onset seizure Status epilepticus Stereotypy Absence seizures Polyphagia Anterior plagiocephaly Overweight Epileptic spasms Hearing impairment Ptosis Behavioral abnormality Cognitive impairment Esophagitis Mood swings Cryptorchidism Anteverted nares Micropenis Polymicrogyria Tremor Hypsarrhythmia Elevated alkaline phosphatase Thick lower lip vermilion Strabismus Synophrys Protruding ear Scoliosis Language impairment Abnormality of the skeletal system Peripheral demyelination Kyphoscoliosis Abnormality of the cerebral white matter Small for gestational age Broad nasal tip Dental crowding Tented upper lip vermilion Long foot Myoclonus Feeding difficulties Atrial septal defect Abnormal heart morphology Dystonia Mutism Heterotaxy Wide nasal bridge Neonatal hypotonia Macroglossia Broad face Short palm



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