Global developmental delay, and Synophrys

Diseases related with Global developmental delay and Synophrys

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

Top matches:

Hennekam lymphangiectasia-lymphedema syndrome-3 (HKKLLS3) is characterized by widespread congenital edema that is more severe in more dependent areas of the body. Associated features include facial dysmorphism and protein-losing enteropathy of variable severity (Brouillard et al., 2017).For a discussion of genetic heterogeneity of Hennekam lymphangiectasia-lymphedema syndrome, see HKLLS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Hypertelorism
  • Strabismus
  • Abnormal facial shape
  • Edema


SOURCES: OMIM MENDELIAN

More info about HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 3; HKLLS3

Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Cleft palate
  • Agenesis of corpus callosum
  • Proptosis


SOURCES: OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 11; HPE11

X-LINKED INTELLECTUAL DISABILITY WITH ISOLATED GROWTH HORMONE DEFICIENCY Is also known as mrgh

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • High palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY WITH ISOLATED GROWTH HORMONE DEFICIENCY

Other less relevant matches:

Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome is a rare, syndromic intellectual disability syndrome characterized by cortical blindness, different types of seizures, intellectual disability with limited or absent speech, and dysmorphic facial features. Brain imaging typically shows mild pontine hypoplasia, hypoplasia of the corpus callosum and atrophy in the occipital region.

EARLY-ONSET EPILEPTIC ENCEPHALOPATHY-CORTICAL BLINDNESS-INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME Is also known as epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Visual impairment
  • Wide nasal bridge
  • Anteverted nares


SOURCES: ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET EPILEPTIC ENCEPHALOPATHY-CORTICAL BLINDNESS-INTELLECTUAL DISABILITY-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

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about ZIMMERMANN-LABAND SYNDROME 2; ZLS2

Autosomal recessive spinocerebellar ataxia-17 is a neurologic disorder characterized by onset of gait ataxia and cerebellar signs in early childhood. Patients also have variable intellectual disability (summary by Evers et al., 2016).

AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA DUE TO CWF19L1 DEFICIENCY Is also known as scar17|spinocerebellar ataxia autosomal recessive type 17

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA DUE TO CWF19L1 DEFICIENCY

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13; MRT13

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7; MC3DN7

Waardenburg syndrome type 4 (WS4), also known as Waardenburg-Shah syndrome, is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease (reviews by Read and Newton, 1997 and Pingault et al., 2010). WS type 4A is caused by mutation in the EDNRB gene (OMIM ). Clinical Variability of Waardenburg Syndrome Types 1-4Waardenburg syndrome has been classified into 4 main phenotypes. Type I Waardenburg syndrome (WS1 ) is characterized by pigmentary abnormalities of the hair, including a white forelock and premature graying; pigmentary changes of the iris, such as heterochromia iridis and brilliant blue eyes; congenital sensorineural hearing loss; and 'dystopia canthorum.' WS type II (WS2) is distinguished from type I by the absence of dystopia canthorum. WS type III (WS3 ) has dystopia canthorum and is distinguished by the presence of upper limb abnormalities. WS type 4 has the additional feature of Hirschsprung disease (reviews by Read and Newton, 1997 and Pingault et al., 2010). Genetic Heterogeneity of Waardenburg Syndrome Type 4Waardenburg syndrome type 4 is genetically heterogeneous. WS4B (OMIM ) is caused by mutation in the EDN3 gene (OMIM ) on chromosome 20q13, and WS4C (OMIM ) is caused by mutation in the SOX10 gene (OMIM ) on chromosome 22q13.

WAARDENBURG SYNDROME, TYPE 4A; WS4A Is also known as waardenburg-shah syndrome|waardenburg syndrome, type iva|ws4|waardenburg syndrome with hirschsprung disease, type 4a|shah-waardenburg syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about WAARDENBURG SYNDROME, TYPE 4A; WS4A

Top 5 symptoms//phenotypes associated to Global developmental delay and Synophrys

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Wide nasal bridge Uncommon - Between 30% and 50% cases
Thick eyebrow Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Global developmental delay and Synophrys. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly Generalized hypotonia Sensorineural hearing impairment Hearing impairment Upslanted palpebral fissure Intellectual disability, mild

Rare Symptoms - Less than 30% cases

Hypoplasia of the corpus callosum Absent speech Telecanthus Short philtrum Abnormality of the cerebral white matter Thick vermilion border Motor delay Long eyelashes Low anterior hairline Ptosis Coarse facial features Brachycephaly Neonatal hypotonia Hyperactivity Short neck Mild microcephaly Ataxia Delayed speech and language development Intellectual disability, moderate Poor speech Hypotelorism Abnormal facial shape Short stature Cleft lip High palate Growth hormone deficiency Epicanthus Agenesis of corpus callosum Cleft palate White forelock Unilateral ptosis Heterochromia iridis White eyelashes Obesity Blue irides Premature graying of hair Developmental regression Intellectual disability, severe Growth delay Abnormality of the distal phalanx of the thumb Monotonic speech Thoracic hemivertebrae White eyebrow Hypopigmentation of the skin Nonprogressive cerebellar ataxia Frequent falls Falls Abnormal cerebellum morphology Apraxia Intention tremor Cerebellar vermis hypoplasia Clumsiness Piebaldism Cleft upper lip Truncal ataxia Horizontal nystagmus Hemivertebrae Oculomotor apraxia Infantile muscular hypotonia Slurred speech Microcolon Smooth philtrum Progressive microcephaly Downturned corners of mouth Hypopigmented skin patches Leukodystrophy Polyneuropathy Abnormality of skin pigmentation Muscular hypotonia Nystagmus Proximal renal tubular acidosis Renal tubular acidosis Metabolic acidosis Postaxial polydactyly Aggressive behavior Acidosis Polydactyly Spastic paraparesis Intrauterine growth retardation Depressed nasal bridge Round face Slender finger Febrile seizures Postnatal microcephaly Aganglionic megacolon Severe muscular hypotonia Truncal obesity Congenital sensorineural hearing impairment Overweight Dysmetria Bruxism Intestinal obstruction Unilateral cleft lip Abnormality of the cerebellar vermis Horizontal eyebrow Cryptorchidism Unsteady gait Depressed nasal ridge Abnormality of movement Visual impairment Spina bifida Spina bifida occulta Adrenal insufficiency Hypopituitarism Myelomeningocele Panhypopituitarism Anteverted nares Delayed puberty Blindness Abnormality of the pinna Prominent nasal bridge Broad nasal tip Epileptic encephalopathy Narrow forehead Aspiration Hypothyroidism Cerebral visual impairment Abnormal intestine morphology Strabismus Edema Polyhydramnios Hepatosplenomegaly Flat face Lymphedema Protein-losing enteropathy Severe short stature Facial edema Proptosis Oral cleft Holoprosencephaly Polysplenia Long philtrum Hypsarrhythmia Hypoplasia of the pons Gait ataxia Prominent nasal septum Gingival overgrowth Deep philtrum Anonychia Widow's peak Bifid nasal tip Broad eyebrow Hyperreflexia Small nail Dysarthria Tremor Cerebellar atrophy Dystonia Babinski sign Cerebellar hypoplasia Hypertrichosis Underdeveloped nasal alae Periorbital fullness Dolichocephaly Low-set ears Downslanted palpebral fissures Autism Thin upper lip vermilion EEG abnormality Attention deficit hyperactivity disorder Long face Macroglossia Dental crowding Cafe-au-lait spot Pointed chin Narrow palate Kyphosis Joint hypermobility Hirsutism Hypoganglionosis


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