Global developmental delay, and Decreased testicular size

Diseases related with Global developmental delay and Decreased testicular size

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

Top matches:

Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism.

XQ27.3Q28 DUPLICATION SYNDROME Is also known as trisomy xq27.3q28|dup(x)(q27.3q28)|xq27.3-q28 microduplication syndrome|trisomy xq27.3-q28

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about XQ27.3Q28 DUPLICATION SYNDROME

3-Phosphoglycerate dehydrogenase deficiency (3-PGDH deficiency) is an autosomal recessive form of serine deficiency syndrome (see this term) characterized clinically in the few reported cases by congenital microcephaly, psychomotor retardation and intractable seizures in the infantile form and by absence seizures, moderate developmental delay and behavioral disorders in the juvenile form

3-PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, INFANTILE/JUVENILE FORM Is also known as phgdh deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about 3-PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, INFANTILE/JUVENILE FORM

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is a autosomal recessive disorder associated with severe neurologic defects and resulting in early infantile death. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as dystroglycanopathies (summary by Buysse et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13; MDDGA13 Is also known as walker-warburg syndrome or muscle-eye-brain disease, b3gnt1-related

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Cryptorchidism
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13; MDDGA13

Other less relevant matches:

Dilated cardiomyopathy with ataxia (DCMA) is characterized by severe early onset (before the age of three years) dilated cardiomyopathy (DCM) with conduction defects (long QT syndrome), non-progressive cerebellar ataxia, testicular dysgenesis, and 3-methylglutaconic aciduria.

DILATED CARDIOMYOPATHY WITH ATAXIA Is also known as mga5|dcma|3-methylglutaconic aciduria type 5|cardiomyopathy, dilated, with ataxia|mga, type v|dcma syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DILATED CARDIOMYOPATHY WITH ATAXIA

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 106; MRX106

High match BRESEK SYNDROME

X-linked mental retardation, Reish type is characterised by Brain anomalies, severe mental Retardation, Ectodermal dysplasia, Skeletal deformities (vertebral anomalies, scoliosis, polydactyly), Ear/eye anomalies (maldevelopment, small optic nerves, low set and large ears with hearing loss) and Kidney dysplasia/hypoplasia (giving the acronym BRESEK syndrome).

BRESEK SYNDROME Is also known as bresheck syndrome

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Growth delay


SOURCES: MESH ORPHANET MENDELIAN

More info about BRESEK SYNDROME

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

X-linked lissencephaly with abnormal genitalia (XLAG) is a rare, genetic, central nervous system malformation disorder characterized, in males, by lissencephaly (with posterior predominance and moderately thickened cortex), complete absence of corpus callosum, neonatal-onset (mainly perinatal) intractable seizures, postnatal microcephaly, severe hypotonia, poor responsiveness and hypogonadism (micropenis, hypospadias, cryptorchidism, small scrotal sac). Defective temperature regulation and chronic diarrhea may be additionally observed.

X-LINKED LISSENCEPHALY WITH ABNORMAL GENITALIA Is also known as xlisg|xlag (x-linked lissencephaly with abnormal genitalia) syndrome|lissencephaly, x-linked, with ambiguous genitalia|x-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome|xlag|x-linked lissencephaly with ambiguous genitalia

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about X-LINKED LISSENCEPHALY WITH ABNORMAL GENITALIA

Wilson-Turner syndrome (WTS) is a very rare X-linked multisystem genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature.

WILSON-TURNER SYNDROME Is also known as wts|mental retardation, x-linked, with gynecomastia and obesity|mrxs6|mental retardation, x-linked, syndromic 6|x-linked intellectual disability-gynecomastia-obesity syndrome

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about WILSON-TURNER SYNDROME

Kenny-Caffey syndrome is characterized by severe proportionate short stature, cortical thickening and medullary stenosis of the tubular bones, delayed closure of the anterior fontanel, eye abnormalities, and transient hypocalcemia. Patients with autosomal dominant KCS type 2 have normal intelligence (Kenny and Linarelli, 1966; Caffey, 1967; summary by Isojima et al., 2014).See KCS1 (OMIM ) for a discussion of an autosomal recessive form of Kenny-Caffey syndrome.

AUTOSOMAL DOMINANT KENNY-CAFFEY SYNDROME Is also known as kenny syndrome|dwarfism, cortical thickening of tubular bones, and transient hypocalcemia

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT KENNY-CAFFEY SYNDROME

Top 5 symptoms//phenotypes associated to Global developmental delay and Decreased testicular size

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
Growth delay Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Hypogonadism Low-set ears Intrauterine growth retardation Abnormal facial shape Cataract Generalized hypotonia Short stature Micropenis Hypermetropia Thin upper lip vermilion Retrognathia Specific learning disability Postnatal growth retardation Small hand Failure to thrive Muscular hypotonia Hypertelorism Deeply set eye

Rare Symptoms - Less than 30% cases

Prominent forehead Microphthalmia Hydrocephalus Agenesis of corpus callosum Dilated cardiomyopathy High hypermetropia Renal dysplasia Lissencephaly Wide nose Hypospadias Congestive heart failure Cardiomyopathy Anemia Ventricular septal defect Motor delay Spasticity Aganglionic megacolon Micrognathia Delayed skeletal maturation Truncal obesity Nystagmus Obesity Short foot Gynecomastia Small for gestational age Congenital cataract Hypergonadotropic hypogonadism High pitched voice Long philtrum Exocrine pancreatic insufficiency Infantile spasms Abnormal left ventricle morphology Congenital ptosis Hyperreflexia Stroke-like episode Premature graying of hair Profound global developmental delay Hydranencephaly Long upper lip Duane anomaly Abnormality of temperature regulation Temperature instability Type I lissencephaly Wide anterior fontanel Postnatal microcephaly Hypohidrosis Prominent nasal bridge Ventriculomegaly Diarrhea Patent ductus arteriosus Kyphosis Hyperactivity High palate Respiratory failure High forehead Feeding difficulties in infancy Moyamoya phenomenon Severe global developmental delay Chronic diarrhea Abnormal hand morphology Malabsorption Pulmonary hypoplasia Abnormality of the nares Gliosis Hypoplasia of penis Broad finger Ambiguous genitalia Pachygyria Wide nasal bridge Delayed speech and language development Emotional lability Absent speech Persistence of primary teeth Hypocalcemia Delayed cranial suture closure Basal ganglia calcification Proportionate short stature Papilledema Hypoparathyroidism Hyperphosphatemia Decreased skull ossification Tetany Delayed closure of the anterior fontanelle Bilateral microphthalmos Hypocalcemic seizures Small nail Hypocalcemic tetany Thickened cortex of long bones Congenital hypoparathyroidism Postnatal macrocephaly Cortical thickening of long bone diaphyses Thin long bone diaphyses Stenosis of the medullary cavity of the long bones Calvarial osteosclerosis Retinal calcification Transient hypophosphatemia Abnormal circulating follicle-stimulating hormone level Increased bone mineral density High myopia Pes cavus Azoospermia Brachycephaly Pes planus Microtia Neurological speech impairment Delayed puberty Poor speech Thick eyebrow Tapered finger Broad nasal tip Hypogonadotrophic hypogonadism Prominent supraorbital ridges Decreased muscle mass Neutropenia Misalignment of teeth Malar prominence Uplifted earlobe Short ear Flexion contracture Myopia Macrocephaly Edema Severe short stature Abnormality of the liver Carious teeth Infertility Cerebral hemorrhage Hearing impairment Short phalanx of finger Occipital encephalocele Dandy-Walker malformation Encephalocele Heterotopia Opacification of the corneal stroma Severe muscular hypotonia Congenital muscular dystrophy Hypoplasia of the brainstem Cortical dysplasia Absent septum pellucidum Anencephaly Muscular dystrophy Retinal dysplasia Type II lissencephaly Renal cortical cysts Optic nerve dysplasia Ataxia Muscle weakness Optic atrophy Arrhythmia Hypoglycemia Hepatic steatosis Renal cyst Hydronephrosis Aciduria Hypertonia Intellectual disability, mild Neonatal hypotonia Thin vermilion border Bulbous nose Premature ovarian insufficiency Sparse body hair Increased circulating gonadotropin level Decreased serum testosterone level Abdominal obesity Primary testicular failure Thrombocytopenia Cerebellar hypoplasia Spastic tetraplegia Hypsarrhythmia Adducted thumb Megaloblastic anemia Congenital microcephaly Cerebral dysmyelination Cognitive impairment Hypoplasia of the corpus callosum Blindness Elevated serum creatine phosphokinase Sudden cardiac death Mitral regurgitation Growth hormone deficiency Vesicoureteral reflux Periventricular leukomalacia Scoliosis Cleft palate Intellectual disability, severe Alopecia Protruding ear Hypotrichosis Ichthyosis Iris coloboma Convex nasal ridge Supernumerary nipple Postaxial hand polydactyly Renal hypoplasia Hemivertebrae Plagiocephaly Optic nerve hypoplasia Abnormality of brain morphology Hypoplasia of the bladder Ptosis Hypertension Stroke Slender finger Spastic diplegia Abnormality of the genital system 3-Methylglutaric aciduria Prolonged QT interval Hypokinesia Microcytic anemia Perineal hypospadias 3-Methylglutaconic aciduria Microvesicular hepatic steatosis Nonprogressive cerebellar ataxia Glutaric aciduria Testicular dysgenesis Noncompaction cardiomyopathy Penile hypospadias Drooling Normochromic microcytic anemia Clinodactyly Clinodactyly of the 5th finger Astigmatism Thick vermilion border Narrow forehead Open mouth Amblyopia Finger clinodactyly Bicuspid aortic valve Abnormality of the medullary cavity of the long bones


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