Hypertelorism, and Growth hormone deficiency

Diseases related with Hypertelorism and Growth hormone deficiency

In the following list you will find some of the most common rare diseases related to Hypertelorism and Growth hormone deficiency that can help you solving undiagnosed cases.

Top matches:

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

Intellectual disability-strabismus syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by moderate to severe intellectual disability and esotropia. Other associated features may include growth failure (underweight, failure to thrive, short stature), microcephaly, tone abnormalities (hypotonia, spasticity), epilepsy, behavioral problems (hyperactivity, aggressiveness), and/or abnormal brain morphology, including arachnoid cyst, cerebral atrophy, mild ventriculomegaly, abnormal CNS myelination or corpus callosum agenesis.

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-STRABISMUS SYNDROME

Combined oxidative phosphorylation defect type 25 is a rare mitochondrial oxidative phosphorylation disorder with decreased respiratory complex I and IV enzyme activities, characterized by hypotonia, global developmental delay, neonatal onset of progressive pectus carinatum without other skeletal abnormalities, poor growth, sensorineural hearing loss, dysmorphic features and brain abnormalities such as cerebral atrophy, quadriventricular dilatation and thin corpus callosum posteriorly.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 25 Is also known as coxpd25

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 25

Other less relevant matches:

Joubert syndrome-26 is an autosomal recessive ciliopathy characterized by global developmental delay associated with cerebellar hypoplasia and variable additional abnormalities, including hypotonia and possibly pituitary abnormalities (summary by Sanders et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Ataxia
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 26; JBTS26

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about NOONAN SYNDROME 6; NS6

Neurohypophyseal diabetes insipidus is an autosomal dominant disorder of free water conservation characterized by childhood onset of polyuria and polydipsia. Affected individuals are apparently normal at birth, but characteristically develop symptoms of vasopression deficiency during childhood (summary by Wahlstrom et al., 2004).

DIABETES INSIPIDUS, NEUROHYPOPHYSEAL Is also known as diabetes insipidus, cranial type|diabetes insipidus, primary central|cdi

Related symptoms:

  • Intellectual disability
  • Seizures
  • Growth delay
  • Hypertelorism
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about DIABETES INSIPIDUS, NEUROHYPOPHYSEAL

Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism.

MOYAMOYA ANGIOPATHY-SHORT STATURE-FACIAL DYSMORPHISM-HYPERGONADOTROPIC HYPOGONADISM SYNDROME Is also known as syndromic moyamoya disease|moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism|chromosome xq28 deletion syndrome, 3.4-kb

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about MOYAMOYA ANGIOPATHY-SHORT STATURE-FACIAL DYSMORPHISM-HYPERGONADOTROPIC HYPOGONADISM SYNDROME

Axenfeld-Rieger syndrome is an autosomal dominant disorder of morphogenesis that results in abnormal development of the anterior segment of the eye, and results in blindness from glaucoma in approximately 50% of affected individuals (Fitch and Kaback, 1978). Systemic anomalies are associated, including dental hypoplasia, failure of involution of periumbilical skin, and maxillary hypoplasia (Alkemade, 1969). Genetic Heterogeneity of Axenfeld-Rieger SyndromeLinkage studies indicate that a second type of Axenfeld-Rieger syndrome maps to chromosome 13q14 (RIEG2 ). A third form of Axenfeld-Rieger syndrome (RIEG3 ) is caused by mutation in the FOXC1 gene (OMIM ) on chromosome 6p25.See {109120} for a form of Axenfeld-Rieger syndrome associated with partially absent eye muscles, hydrocephalus, and skeletal abnormalities.

AXENFELD-RIEGER SYNDROME, TYPE 1; RIEG1 Is also known as rieger syndrome, type 1|rgs|rieg

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AXENFELD-RIEGER SYNDROME, TYPE 1; RIEG1

GDACCF is an intellectual disability syndrome apparent soon after birth with neonatal hypotonia, poor feeding, and respiratory insufficiency followed by delayed psychomotor development and intellectual disability with poor speech. Brain imaging shows aplasia or hypoplasia of the corpus callosum. Affected individuals have variable dysmorphic facial features, and some may have dysplastic, cystic kidneys or mild cardiac defects (summary by Stevens et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES; GDACCF

Noonan syndrome-like disorder with loose anagen hair is characterized by facial features similar to those observed in Noonan syndrome (OMIM ), including hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly angulated ears, and overfolded pinnae. In addition, patients display short stature, frequently with growth hormone (GH; see {139250}) deficiency; cognitive deficits; relative macrocephaly; small posterior fossa resulting in Chiari I malformation; hypernasal voice; cardiac defects, especially dysplasia of the mitral valve and septal defects; and ectodermal abnormalities, in which the most characteristic feature is the hair anomaly, including easily pluckable, sparse, thin, slow-growing hair (summary by Bertola et al., 2017). Genetic Heterogeneity of Noonan Syndrome-Like Disorder with Loose Anagen HairNSLH2 (OMIM ) is caused by mutation in the PPP1CB gene (OMIM ) on chromosome 2p23.

NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1; NSLH1 Is also known as tosti syndrome|nslh

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1; NSLH1

Top 5 symptoms//phenotypes associated to Hypertelorism and Growth hormone deficiency

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Growth delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hypertelorism and Growth hormone deficiency. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Wide nasal bridge Low-set ears Epicanthus Long philtrum Ptosis Telecanthus Feeding difficulties Hypothyroidism Anteverted nares Prominent forehead Abnormal heart morphology Downslanted palpebral fissures Depressed nasal bridge Hearing impairment Abnormal facial shape Strabismus

Rare Symptoms - Less than 30% cases

Hypoplasia of the corpus callosum Constipation Short nose Bilateral ptosis Frontal bossing Wide nose Confusion Macrocephaly Cardiomyopathy High forehead Hypertrophic cardiomyopathy Pulmonic stenosis Webbed neck Seizures Relative macrocephaly Sensorineural hearing impairment Dilatation Panhypopituitarism Ventriculomegaly Hydrocephalus Failure to thrive Cognitive impairment Microcephaly Coarse facial features Retrognathia Intellectual disability, mild Upslanted palpebral fissure Hyperactivity Anterior synechiae of the anterior chamber Abnormality of the abdominal wall Abnormality of the dentition Hypoplasia of the iris Blindness Posterior embryotoxon Rieger anomaly Mandibular prognathia Scoliosis Abnormality of the skeletal system Polycoria Muscle weakness Aniridia Bilateral choanal atresia Axenfeld anomaly Abnormally prominent line of Schwalbe Moyamoya phenomenon Abnormal hand morphology Talipes equinovarus Megalocornea Myotonia Anal stenosis Microcornea Inguinal hernia Visual loss Umbilical hernia Hypospadias Thin upper lip vermilion Conductive hearing impairment Short philtrum Anal atresia Everted lower lip vermilion Hypodontia Abnormality of dental morphology Hypoplasia of the maxilla Microdontia Choanal atresia Hypoplasia of dental enamel Reduced number of teeth Slurred speech Prominent supraorbital ridges Glaucoma Hernia Kyphosis Respiratory insufficiency Triangular face Patent ductus arteriosus Ichthyosis Narrow philtrum Infra-orbital crease Ventricular septal defect Short neck Atrial septal defect Posteriorly rotated ears Polyhydramnios Joint laxity Abnormal cardiac septum morphology Attention deficit hyperactivity disorder Eczema Broad columella Sparse scalp hair Long eyelashes Hyperpigmentation of the skin Nasal speech Redundant skin Arnold-Chiari type I malformation Megalencephaly Deep palmar crease Slow-growing hair Small posterior fossa Oval face Gastrointestinal dysmotility Agenesis of corpus callosum Broad finger Pes planus Neonatal hypotonia Hydronephrosis Abnormality of the pinna Wide mouth Hypermetropia Poor speech Talipes Smooth philtrum Renal cyst Mitral valve prolapse Mitral stenosis Coarctation of aorta Short palpebral fissure Renal dysplasia Pointed chin Narrow palate Deep philtrum Flat occiput Hypoplastic left heart Delayed ability to walk Inverted nipples Low hanging columella Abnormality of the nares Histiocytosis Congenital ptosis Molar tooth sign on MRI Recurrent infections Cerebellar hypoplasia Micropenis Cleft lip Apraxia Oculomotor apraxia Tachypnea Cone/cone-rod dystrophy Recurrent upper respiratory tract infections Central hypothyroidism Nystagmus Ectopic posterior pituitary Inferior vermis hypoplasia Cryptorchidism Delayed speech and language development Motor delay Myopia Edema Hyperkeratosis Sparse hair Broad forehead Cleft palate Ataxia Cafe-au-lait spot Myelomeningocele High palate Severe short stature Intellectual disability, moderate Synophrys Delayed puberty Aspiration Spina bifida Spina bifida occulta Adrenal insufficiency Hypopituitarism Behavioral abnormality Intraventricular hemorrhage Aggressive behavior Delayed myelination Esotropia Neurodevelopmental delay Cerebellar atrophy Cerebral atrophy Gastroesophageal reflux Pectus carinatum Increased body weight Preeclampsia Leukemia Curly hair Abnormal left ventricle morphology Hypogonadism Enuresis Central diabetes insipidus Pollakisuria Nocturia Hypertonic dehydration Abnormality of the anterior pituitary Germinoma Cataract Hypertension Congestive heart failure Deeply set eye Diabetes insipidus Stroke Dilated cardiomyopathy Small hand Decreased testicular size Short phalanx of finger Hypergonadotropic hypogonadism Azoospermia Cerebral hemorrhage Premature graying of hair Stroke-like episode Orthostatic hypotension Polyuria Broad neck Weight loss Asymmetry of the thorax Long eyebrows Juvenile myelomonocytic leukemia Neoplasm Fever Fatigue Vomiting Abnormality of metabolism/homeostasis Osteoporosis Diabetes mellitus Osteopenia Polydipsia Irritability Autoimmunity Lethargy Dry skin Vertigo Coma Gliosis Syncope Hypotension Dehydration Loose anagen hair


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Intellectual disability, severe and Lethargy, related diseases and genetic alterations Lymphoma and Vertigo, related diseases and genetic alterations Pain and Paraplegia, related diseases and genetic alterations Cardiomyopathy and Omphalocele, related diseases and genetic alterations Cognitive impairment and Myocardial infarction, related diseases and genetic alterations