Global developmental delay, and Thin upper lip vermilion

Diseases related with Global developmental delay and Thin upper lip vermilion

In the following list you will find some of the most common rare diseases related to Global developmental delay and Thin upper lip vermilion that can help you solving undiagnosed cases.


Top matches:

High match INTELLECTUAL DISABILITY-FEEDING DIFFICULTIES-DEVELOPMENTAL DELAY-MICROCEPHALY SYNDROME


Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by borderline to severe intellectual disability, global development delay, feeding difficulties, microcephaly, short stature and mild facial dysmorphism, including thick eyebrows, long eyelashes, prominent incisors and/or thin upper lip. Other associated features may include hypermetropia with or without esotropia, behavioral anomallies (e.g. autistic behavior, sleeping disturbances), urogenital abnormalities (e.g. crytorchidism, inguinal hernia), single palmar crease, fifth-finger clinodactyly and cardiac defects (e.g. ASD, PDA).

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-FEEDING DIFFICULTIES-DEVELOPMENTAL DELAY-MICROCEPHALY SYNDROME

High match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63; EIEE63


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63; EIEE63

High match INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES; IDDNPF


Intellectual developmental disorder with neuropsychiatric features is an autosomal recessive disorder characterized by moderate intellectual disability, relatively mild seizures, and neuropsychiatric abnormalities, such as anxiety, obsessive-compulsive behavior, and autistic features. Mild facial dysmorphic features may also be present (summary by Srour et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES; IDDNPF

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

High match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15; MRT15


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15; MRT15

High match INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN


Intellectual developmental disorder with persistence of fetal hemoglobin is characterized by delayed psychomotor development, intellectual disability, variable dysmorphic features, including microcephaly, downslanting palpebral fissures, strabismus, and external ear abnormalities, and asymptomatic persistence of fetal hemoglobin (HbF) (summary by Dias et al., 2016).Many of these features overlap with chromosome 2p16.1-p15 deletion syndrome (OMIM ).

INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN Is also known as dias-logan syndrome|intellectual developmental disorder with hereditary persistence of fetal hemoglobin

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Strabismus
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN

High match SEVERE INTELLECTUAL DISABILITY-POOR LANGUAGE-STRABISMUS-GRIMACING FACE-LONG FINGERS SYNDROME


Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by global development delay with very limited or absent speech and language, severe intellectual disability, long slender fingers, ocular abnormalities (typically strabismus or hypermetropia), and facial dysmorphism that includes a grimacing facial expression, a tubular-shaped nose with a prominent, broad base and tip, and other variable features, such as broad forehead, hypertelorism, deep-set eyes, narrow palpebral fissures, short philtrum and/or broad mouth.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Strabismus


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE INTELLECTUAL DISABILITY-POOR LANGUAGE-STRABISMUS-GRIMACING FACE-LONG FINGERS SYNDROME

High match INTELLECTUAL DISABILITY-EXPRESSIVE APHASIA-FACIAL DYSMORPHISM SYNDROME


INTELLECTUAL DISABILITY-EXPRESSIVE APHASIA-FACIAL DYSMORPHISM SYNDROME Is also known as intellectual disability-loss of expressive language-facial dysmorphism syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hypertelorism
  • Ptosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-EXPRESSIVE APHASIA-FACIAL DYSMORPHISM SYNDROME

High match NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL


NEDDFL is a neurodevelopmental disorder characterized by delayed psychomotor development and intellectual disability, poor growth with small head size, dysmorphic facial features, and mild abnormalities of the hands and feet (summary by Stankiewicz et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL

High match AL-RAQAD SYNDROME; ARS


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AL-RAQAD SYNDROME; ARS

High match VERVERI-BRADY SYNDROME; VERBRAS


Ververi-Brady syndrome is a disorder characterized by mild developmental delay, mild intellectual disability and speech delay, and mild dysmorphic facial features. Affected individuals can usually attend mainstream schools with support, and may also show autistic features (summary by Ververi et al., 2018).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about VERVERI-BRADY SYNDROME; VERBRAS

Top 5 symptoms//phenotypes associated to Global developmental delay and Thin upper lip vermilion

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Hypertelorism Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Downslanted palpebral fissures Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Global developmental delay and Thin upper lip vermilion. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Abnormal facial shape Seizures Strabismus Low-set ears Absent speech Delayed speech and language development Motor delay Hypermetropia Broad nasal tip Autistic behavior Prominent nose Growth delay Smooth philtrum Autism

Rare Symptoms - Less than 30% cases


Wide nose Pointed chin Long face Dolichocephaly Short philtrum Epicanthus Neonatal hypotonia Joint laxity Cupped ear Pain Deeply set eye Wide mouth Ptosis Intellectual disability, mild Brachycephaly Upslanted palpebral fissure Narrow mouth Sandal gap Unsteady gait Wide nasal bridge Everted lower lip vermilion Generalized-onset seizure Intellectual disability, moderate Feeding difficulties Inability to walk Overlapping toe Midface retrusion Short stature Depressed nasal bridge Thin vermilion border Synophrys Cataract Cryptorchidism High palate Clinodactyly Patent ductus arteriosus Abnormality of the skeletal system Myopia Abnormality of the dentition Dental crowding Micrognathia EEG abnormality Atrial septal defect Pes planus Narrow palate Attention deficit hyperactivity disorder Cafe-au-lait spot Unilateral renal agenesis Underdeveloped nasal alae Abnormality of the cerebral white matter Hypopigmentation of the skin Mildly elevated creatine phosphokinase Frequent falls Intention tremor Falls Abnormality of the nervous system Elevated serum creatine phosphokinase Tremor Intrauterine growth retardation Hyperplasia of the maxilla Flat face Small hand Abnormal cardiac septum morphology Short nose Brachydactyly Slender finger Broad hallux Cleft palate Postnatal microcephaly Short palpebral fissure Long toe Inappropriate laughter Long palpebral fissure Tics Short chin Cerebellar atrophy Hypoplasia of the corpus callosum Delayed ability to walk Long eyebrows Broad eyebrow Overweight Polyphagia Truncal obesity Anxiety Retrognathia Highly arched eyebrow Triangular face Focal-onset seizure Aggressive behavior Obesity Malar flattening Nephrocalcinosis Obsessive-compulsive behavior Obsessive-compulsive trait Cerebral palsy Joint hypermobility Fair hair Broad forehead Self-mutilation Hyperparathyroidism Long fingers Language impairment Narrow palpebral fissure Fine hair Coarctation of aorta Astigmatism Poor speech Blepharophimosis Epileptic encephalopathy Sparse hair Long philtrum Cerebral cortical atrophy Hyperactivity Intellectual disability, severe Abnormality of movement Generalized myoclonic seizures Overfolded helix Blue sclerae Impaired social interactions



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Motor delay and Vertigo, related diseases and genetic alterations Congestive heart failure and Dysphagia, related diseases and genetic alterations Delayed speech and language development and Myeloid leukemia, related diseases and genetic alterations Anemia and Hypopigmentation of the skin, related diseases and genetic alterations Growth delay and Eosinophilia, related diseases and genetic alterations Short stature and Eczema, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more