Hypertelorism, and Severe global developmental delay

Diseases related with Hypertelorism and Severe global developmental delay

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


Top matches:

High match MONOSOMY 5P


Monosomy 5p, also known as Cri du chat syndrome, is a rare autosomal deletion syndrome characterized by a mewing cry (cri du chat) in infancy, multiple congenital anomalies, intellectual disability, microcephaly, and facial dysmorphism.

MONOSOMY 5P Is also known as cri du chat syndrome|deletion 5p

Related symptoms:

  • Short stature
  • Microcephaly
  • Scoliosis
  • Hypertelorism
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about MONOSOMY 5P

High match PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER); PBD10A


Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 12 (CG12, equivalent to CGG) have mutations in the PEX3 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hypertelorism
  • Micrognathia
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER); PBD10A

High match 2Q24 MICRODELETION SYNDROME


2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism.

2Q24 MICRODELETION SYNDROME Is also known as monosomy 2q24|del(2)(q24)

Related symptoms:

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


SOURCES: ORPHANET MESH MENDELIAN

More info about 2Q24 MICRODELETION SYNDROME

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Other less relevant matches:

High match IMMUNODEFICIENCY 49; IMD49


IMMUNODEFICIENCY 49; IMD49 Is also known as severe combined immunodeficiency, t cell-negative, b cell-positive, nk cell-positive, with intellectual disability, spasticity, and craniofacial abnormalities|scid, t cell-negative, b cell-positive, nk cell-positive, with intellectual disability, spastici

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY 49; IMD49

High match HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC


HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC Is also known as hyperferritinemia-cataract syndrome|hyperferritinemia, hereditary, with congenital cataracts|hhcs

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC

High match BAINBRIDGE-ROPERS SYNDROME; BRPS


Bainbridge-Ropers syndrome (BRPS) is a developmental disorder characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, hypotonia, feeding difficulties, poor growth, and dysmorphic facial features (summary by Srivastava et al., 2016).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about BAINBRIDGE-ROPERS SYNDROME; BRPS

High match POLYHYDRAMNIOS-MEGALENCEPHALY-SYMPTOMATIC EPILEPSY SYNDROME


POLYHYDRAMNIOS-MEGALENCEPHALY-SYMPTOMATIC EPILEPSY SYNDROME Is also known as pmse syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about POLYHYDRAMNIOS-MEGALENCEPHALY-SYMPTOMATIC EPILEPSY SYNDROME

High match CEDNIK SYNDROME


CEDNIK syndrome is a neurocutaneaous syndrome characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis.

CEDNIK SYNDROME Is also known as cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome|cednik syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CEDNIK SYNDROME

High match HARTSFIELD SYNDROME


Hartsfield syndrome is a rare, genetic, developmental defect during embryogenesis malformation syndrome characterized by the association of variable degrees of holoprosencephaly and uni- or bilateral ectrodactyly of the hands and/or feet. Additional variable features, including facial dysmorphism (e.g. hypertelorism, short bulbous nose, long philtrum, dysplastic/low-set ears, cleft lip and palate, tented upper lip), other brain malformations (such as corpus callosum agenesis, absent septum pellucidum, absent olfactory bulbs/tracts, vermian hypoplasia), pituitary gland-related endocrine disorders (e.g. central diabetes insipidus, hypogonadotropic hypogonadism) and hypothalamic dysfunction, may be associated.

HARTSFIELD SYNDROME Is also known as holoprosencephaly-ectrodactyly-cleft lip/palate syndrome|holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about HARTSFIELD SYNDROME

High match PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY


Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction.

PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY Is also known as diaphorase deficiency|2-oxoglutarate complex deficiency|pyruvate dehydrogenase protein x component deficiency|dihydrolipoyl dehydrogenase deficiency|branched chain alpha-ketoacid dehydrogenase complex deficiency|pyruvate dehydrogenase complex component e3

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY

Top 5 symptoms//phenotypes associated to Hypertelorism and Severe global developmental delay

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Downslanted palpebral fissures Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Hypertelorism and Severe global developmental delay. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Wide nasal bridge

Uncommon Symptoms - Between 30% and 50% cases


Failure to thrive Generalized hypotonia Agenesis of corpus callosum Epicanthus Low-set, posteriorly rotated ears High palate Muscular hypotonia Cataract Congestive heart failure Low-set ears Feeding difficulties Short stature Hypoplasia of the corpus callosum Strabismus Cleft palate Absent speech Neonatal hypotonia Growth delay Micrognathia Abnormal facial shape Intrauterine growth retardation Short neck

Rare Symptoms - Less than 30% cases


Ataxia Abnormality of the dentition Respiratory insufficiency Poor head control Abnormality of eye movement Hypogonadism Optic atrophy Depressed nasal bridge Posteriorly rotated ears Upslanted palpebral fissure Spastic tetraplegia Hearing impairment Highly arched eyebrow Short chin Anemia Myopia Macrotia Non-midline cleft lip Diabetes insipidus Long face Wide mouth Prominent nasal bridge Inability to walk Ventriculomegaly Hypoplasia of the brainstem Trigonocephaly Arachnodactyly Cryptorchidism Open mouth Short philtrum Areflexia High forehead Scoliosis Abnormality of cardiovascular system morphology Prominent nose Round face Microphthalmia Atrial septal defect Intellectual disability, severe Ectodermal dysplasia Hypotelorism Abnormality of peripheral nerve conduction Abnormal corpus callosum morphology Perisylvian polymicrogyria Diffuse palmoplantar keratoderma Optic disc hypoplasia Ptosis Protruding ear Cleft lip Wide nose Oral cleft Cleft upper lip Craniosynostosis Cortical dysplasia Hypospadias Micropenis Telecanthus Syndactyly Intellectual disability, progressive Palmoplantar hyperkeratosis Proteinuria Multifocal epileptiform discharges Minimal subcutaneous fat Hyperplasia of midface Hypovolemic shock Small hand Sensorineural hearing impairment Joint hyperflexibility Peripheral neuropathy Finger syndactyly Inguinal hernia Abnormality of the eye Abnormality of vision Stroke Dolichocephaly Ichthyosis Polymicrogyria Polyneuropathy Palmoplantar keratoderma Nephrotic syndrome Depressed nasal ridge Pachygyria Progressive microcephaly Intellectual disability, profound Encephalocele Split hand Partial agenesis of the corpus callosum Unsteady gait Lactic acidosis Hemolytic anemia Metabolic acidosis Coma Increased serum lactate Tetraparesis Progressive neurologic deterioration Broad-based gait Spastic diplegia Difficulty running Muscular hypotonia of the trunk Lipoma Poor coordination Corpus callosum atrophy Severe lactic acidosis Poor fine motor coordination Increased serum pyruvate Hyperalaninemia Decreased activity of the pyruvate dehydrogenase complex Periventricular cysts Subependymal cysts Projectile vomiting Spastic paraplegia Thin upper lip vermilion Large forehead Semilobar holoprosencephaly Holoprosencephaly Cutaneous syndactyly Aplasia/Hypoplasia of the corpus callosum Abnormality of digit Absent septum pellucidum Ectrodactyly Aplasia/Hypoplasia of the radius Megalocornea Gonadotropin deficiency Central diabetes insipidus Long hallux Hypernatremia Acidosis Duplication of thumb phalanx Hypoplasia of the frontal bone Lobar holoprosencephaly Dysarthria Respiratory distress Vomiting Hypertonia Dystonia Cerebral atrophy Dilatation Pectus excavatum Astrocytosis Decreased muscle mass Thick upper lip vermilion Visual impairment Leukopenia Eosinophilia Psoriasiform dermatitis Myopathic facies Natal tooth Severe combined immunodeficiency Pulmonary artery stenosis Secundum atrial septal defect Epiphyseal stippling Decreased fetal movement Pulmonic stenosis Lymphopenia Clinodactyly of the 5th finger Broad forehead Photophobia Joint stiffness Congenital cataract Anal atresia Webbed neck Convex nasal ridge Hypoplasia of penis High myopia Wormian bones Inflammatory abnormality of the skin Abnormality of the fingernails Coloboma Toe syndactyly Camptodactyly of finger Interphalangeal joint contracture of finger Long fingers Central apnea Small face Hand clenching Abnormal oral frenulum morphology Abnormality iris morphology Bullet-shaped distal phalanx of the hallux Autistic behavior Short palpebral fissure Immunodeficiency Hernia Behavioral abnormality Generalized neonatal hypotonia Right aortic arch Narrow mouth Umbilical hernia Hirsutism Tetraplegia Narrow forehead Perimembranous ventricular septal defect Bilateral single transverse palmar creases Polycystic ovaries Facial hypotonia Status epilepticus Ulnar deviation of the hand Macrocephaly Preauricular skin tag Polyhydramnios Difficulty walking Joint laxity Abnormal cardiac septum morphology Leukemia Premature birth Focal-onset seizure Thick lower lip vermilion Delayed ability to walk Narrow face Increased body weight Nephrocalcinosis Shock Drooling Tented upper lip vermilion Focal impaired awareness seizure Recurrent fractures Small for gestational age Megalencephaly Severe postnatal growth retardation Disproportionate tall stature Hypoplastic toenails Pes planus Microcytic anemia Iron deficiency anemia Increased serum ferritin Abnormality of the elbow Ectopic anus Nuclear cataract Pulverulent cataract Anteverted nares Short nose Prominent forehead Postnatal growth retardation Microretrognathia Ventricular septal defect Bulbous nose Hepatomegaly Everted lower lip vermilion Cat cry Broad nasal tip Abnormality of bone mineral density Tall stature Dental crowding High pitched voice Abnormality of the voice Poor gross motor coordination



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