Global developmental delay, and Delayed puberty

Diseases related with Global developmental delay and Delayed puberty

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

Top matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 6; SCKL6

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 60; MRT60

Perrault syndrome (PRLTS) is an autosomal recessive disorder characterized by sensorineural hearing loss (SNHL) and premature ovarian failure (POF) secondary to ovarian dysgenesis. Affected males have SNHL but show normal pubertal development. A spectrum of additional clinical features, including cerebellar ataxia, learning disability, and peripheral neuropathy, have been described in some affected individuals (summary by Jenkinson et al., 2013).For a discussion of genetic heterogeneity of Perrault syndrome, see PRLTS1 (OMIM ).

PERRAULT SYNDROME 3; PRLTS3 Is also known as dfnb81, formerly|deafness, autosomal recessive 81, formerly

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about PERRAULT SYNDROME 3; PRLTS3

Other less relevant 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

SC4MOL deficiency represents an inborn error of cholesterol metabolism that is characterized by accumulation of a large amount of methylsterols, particularly dimethylsterols, in affected patients. The associated features of immune dysregulation, skin disease, and growth delay can be at least partially corrected with cholesterol and statin supplements (He et al., 2014).

MICROCEPHALY-CONGENITAL CATARACT-PSORIASIFORM DERMATITIS SYNDROME Is also known as smo deficiency|sterol-c4-methyl oxidase deficiency|sc4mol deficiency

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROCEPHALY-CONGENITAL CATARACT-PSORIASIFORM DERMATITIS SYNDROME

Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary that is responsible for pituitary deficiency and is usually characterized by the triad of a very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary (EPP) and hypoplasia or aplasia of the anterior pituitary visible on MRI. In some patients the abnormality may be limited to EPP (also called ectopic neurohypophysis) or to an interrupted pituitary stalk.

PITUITARY STALK INTERRUPTION SYNDROME Is also known as psis|ectopic neurohypophysis

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about PITUITARY STALK INTERRUPTION SYNDROME

MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1; MSSGM1 Is also known as mssgm

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1; MSSGM1

Congenital adrenal hypoplasia (AHC) is a rare disorder that can be inherited in an X-linked or autosomal recessive (see {240200}) pattern. In X-linked AHC, primary adrenocortical failure occurs because the adrenal glands lack the permanent adult cortical zone. The remaining cells are termed 'cytomegalic' because they are larger than typical fetal adrenal cells (Hay et al., 1981; Reutens et al., 1999).Patients with AHC usually present in early infancy with primary adrenal failure. Hypogonadotropic hypogonadism (HHG) is a hallmark of the disorder, and is recognized during adolescence because of the absence or interruption of normal pubertal development. Abnormal spermatogenesis has also been observed in these patients. Milder forms of the disease have been described, with adrenal insufficiency sometimes occurring in childhood or even early adulthood. A few cases of partial HHG have been reported (summary by Raffin-Sanson et al., 2013). Transient precocious sexual development in infancy or early childhood can be a prominent feature of AHC (Landau et al., 2010).A contiguous gene syndrome involving a combination of congenital adrenal hypoplasia, glycerol kinase deficiency (OMIM ), and Duchenne muscular dystrophy (DMD ) is caused by deletion of multiple genes on chromosome Xp21 (see {300679}).

CYTOMEGALIC CONGENITAL ADRENAL HYPOPLASIA Is also known as ahch|cytomegalic adrenocortical hypoplasia|x-linked congenital adrenal hypoplasia|adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism|ahc with isolated gonadotropin deficiency|addison disease, x-linked|ahx|ahc with hhg

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Failure to thrive
  • Cryptorchidism
  • Vomiting


SOURCES: OMIM ORPHANET MENDELIAN

More info about CYTOMEGALIC CONGENITAL ADRENAL HYPOPLASIA

The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood. Some patients with PEX10 mutations have a milder disorder characterized by childhood-onset cerebellar ataxia and neuropathy without mental retardation (summary by Waterham and Ebberink, 2012).For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.Individuals with mutations in the PEX10 gene have cells of complementation group 7 (CG7, equivalent to CGB). For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 6B; PBD6B

TREMOR-ATAXIA-CENTRAL HYPOMYELINATION SYNDROME Is also known as tach syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Ataxia
  • Nystagmus
  • Spasticity


SOURCES: ORPHANET MENDELIAN

More info about TREMOR-ATAXIA-CENTRAL HYPOMYELINATION SYNDROME

Top 5 symptoms//phenotypes associated to Global developmental delay and Delayed puberty

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
Intellectual disability, mild Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Primary amenorrhea Failure to thrive Growth delay Hypoglycemia Peripheral neuropathy Ataxia Hearing impairment

Rare Symptoms - Less than 30% cases

Adrenal insufficiency Nystagmus Hypothyroidism Adrenal hypoplasia Cryptorchidism Amenorrhea Intention tremor Hypogonadism Delayed skeletal maturation Hypogonadotrophic hypogonadism Spasticity Sensorineural hearing impairment Motor delay Oligospermia Neonatal hypotonia Renal salt wasting Elevated hepatic transaminase Abnormality of the nervous system Abnormality of the liver Pes cavus Abnormality of the cerebral white matter Peripheral axonal neuropathy Adrenal hyperplasia Distal amyotrophy Distal sensory impairment Gait ataxia Cerebellar atrophy Hyporeflexia Absence of pubertal development Long penis Decreased circulating aldosterone level Congenital adrenal hyperplasia High-frequency hearing impairment Retinal dystrophy Congenital adrenal hypoplasia Adrenocortical hypoplasia Areflexia Generalized hypotonia Decreased circulating cortisol level Visual impairment Dysarthria Tremor Gonadotropin deficiency Abnormal spermatogenesis Hyperreflexia Progressive cerebellar ataxia Spastic dysarthria Clumsiness Leukodystrophy Drooling Oligodontia CNS hypomyelination Postural tremor Impaired vibration sensation in the lower limbs Upper motor neuron dysfunction Delayed eruption of teeth Abnormality of the basal ganglia Positive Romberg sign Vertical supranuclear gaze palsy Abnormality of ocular smooth pursuit Autonomic bladder dysfunction Impaired distal proprioception Focal seizures, afebril Hypodontia Dysmetria Sensory impairment Myopia Limb ataxia Decreased liver function Impaired smooth pursuit Dysmetric saccades Delayed menarche Focal white matter lesions Hyponatremia Optic atrophy Developmental regression Dysphagia Hypoplasia of the corpus callosum Dystonia Babinski sign Cerebellar hypoplasia Cerebral cortical atrophy Deeply set eye Primary adrenal insufficiency Dorsocervical fat pad Precocious puberty Spina bifida Severe short stature Coarse facial features Intellectual disability, moderate Synophrys Growth hormone deficiency Aspiration Spina bifida occulta Wide nasal bridge Hypopituitarism Myelomeningocele Panhypopituitarism Cataract Flexion contracture Arthralgia Long philtrum Epicanthus Ichthyosis Spastic paraplegia Delayed speech and language development Small for gestational age Delayed myelination Pachygyria Decreased body weight Mild microcephaly Paraplegia High palate Lower limb spasticity Hypergonadotropic hypogonadism Premature ovarian insufficiency Congenital sensorineural hearing impairment Hypoplasia of the uterus Secondary amenorrhea Hypertelorism Congenital cataract Inflammatory abnormality of the skin Schizophrenia Delayed thelarche Wide nose Insulin resistance Absence seizures Ketoacidosis Maternal diabetes Hyperinsulinemic hypoglycemia Vomiting Osteoporosis Muscular dystrophy Asthma Dehydration Hyperpigmentation of the skin Accelerated skeletal maturation Azoospermia Shock Joint laxity Short neck Psoriasiform dermatitis Micropenis Erythroderma Blepharitis Immune dysregulation Hypocholesterolemia Decreased LDL cholesterol concentration Anemia Jaundice Scoliosis Hypotension Hypoplasia of penis Diabetes insipidus Abnormality of the hypothalamus-pituitary axis Ectopic posterior pituitary Septo-optic dysplasia Abnormality of the pituitary gland High myoinositol in brain by MRS


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