Global developmental delay, and Gynecomastia

Diseases related with Global developmental delay and Gynecomastia

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

Top matches:

This syndrome is characterised by childhood-onset progressive ataxia and cerebellar atrophy.

AUTOSOMAL RECESSIVE ATAXIA DUE TO UBIQUINONE DEFICIENCY Is also known as arca2|autosomal recessive cerebellar ataxia type 2|spinocerebellar ataxia, autosomal recessive 9|scar9|autosomal recessive ataxia due to coenzyme q10 deficiency|autosomal recessive spinocerebellar ataxia type 9

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE ATAXIA DUE TO UBIQUINONE DEFICIENCY

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

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

Other less relevant matches:

6q terminal deletion syndrome is marked by a characteristic facial dysmorphism, short neck and psychomotor retardation, generally associated with a range of non-specific malformations.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about 6Q TERMINAL DELETION SYNDROME

Cornelia de Lange syndrome is a clinically heterogeneous developmental disorder characterized by malformations affecting multiple systems. Affected individuals have dysmorphic facial features, cleft palate, distal limb defects, growth retardation, and developmental delay. About 60% of patients have mutations in the NIPBL gene (OMIM ) on chromosome 5p13 (CDLS1 ), and about 4 to 6% of patients have mutations in the X-linked SMC1A gene (OMIM ) (CDLS2 ) (summary by Musio et al., 2006, Hoppman-Chaney et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of Cornelia de Lange syndrome, see {122470}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 5; CDLS5

Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes.

BORJESON-FORSSMAN-LEHMANN SYNDROME Is also known as mental retardation, x-linked, syndromic, borjeson-forssman-lehmann type|bfls|intellectual disability-epilepsy-endocrine disorders syndrome|borjeson syndrome|mrxsbfl|mental retardation, epilepsy, and endocrine disorders|borj

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about BORJESON-FORSSMAN-LEHMANN SYNDROME

Frank-ter Haar syndrome (formerly considered as an autosomal recessive form of Melnick-Needles syndrome; see this term) is defined by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay.

FRANK-TER HAAR SYNDROME Is also known as ter haar syndrome|borrone dermatocardioskeletal syndrome|melnick-needles syndrome, autosomal recessive, formerly

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about FRANK-TER HAAR SYNDROME

Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.

INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME Is also known as primrose syndrome|ossified ear cartilages with mental deficiency, muscle wasting, and bony changes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME

Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development.

X-LINKED INTELLECTUAL DISABILITY, NAJM TYPE Is also known as fgs1|keller syndrome|fg syndrome|fgs|x-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome|mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum|fg syndrome 1|micpch

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, NAJM TYPE

High match COWDEN SYNDROME

Cowden syndrome (CS) is a difficult to recognize, under-diagnosed genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group.

COWDEN SYNDROME Is also known as bzs|cowden disease|bbrs|macrocephaly, multiple lipomas, and hemangiomata|pten hamartoma tumor syndrome with granular cell tumor|bannayan-zonana syndrome|macrocephaly, pseudopapilledema, and multiple hemangiomata|cs|cd|mham|pten hamartoma tumor syndrome|ri

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COWDEN SYNDROME

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

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Short stature Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Cryptorchidism

Uncommon Symptoms - Between 30% and 50% cases

Deeply set eye

Common Symptoms - More than 50% cases

Scoliosis

Uncommon Symptoms - Between 30% and 50% cases

Hearing impairment Truncal obesity Hypertelorism Cataract Macrocephaly Hypogonadism Failure to thrive Obesity Abnormal facial shape Kyphosis Thin vermilion border Decreased testicular size Strabismus Brachycephaly Downslanted palpebral fissures Intellectual disability, mild Abnormality of the skeletal system Cognitive impairment Microcephaly Intellectual disability, moderate Delayed speech and language development Broad nasal tip Micropenis Hypermetropia Heterotopia Prominent supraorbital ridges Skeletal muscle atrophy Hydrocephalus Broad forehead Pectus excavatum Motor delay Flexion contracture Macrotia Hypothyroidism Downturned corners of mouth Nystagmus Anteverted nares Myopia Feeding difficulties High palate Ptosis Plagiocephaly Prominent forehead Short neck Hypergonadotropic hypogonadism Intellectual disability, severe Gait ataxia Pes cavus Short foot Growth delay Muscular hypotonia Ataxia Small hand

Rare Symptoms - Less than 30% cases

Gait disturbance Hirsutism Proximal muscle weakness Developmental regression Peripheral neuropathy Visual impairment Broad thumb Myopathy Delayed cranial suture closure Cutis marmorata Nevus Abnormal pyramidal sign Prominent nasal bridge Synophrys Neoplasm Coarse facial features Feeding difficulties in infancy Cleft lip Telecanthus Gastroesophageal reflux Clinodactyly of the 5th finger Abnormality of the dentition Depressed nasal bridge Cleft palate Specific learning disability Full cheeks Abnormality of the pinna Brachydactyly Respiratory failure Umbilical hernia Osteoporosis Inguinal hernia Abnormal heart morphology Camptodactyly Protruding ear Abnormality of cardiovascular system morphology Wide mouth Ventricular septal defect Wide nasal bridge Low-set ears Sparse hair Tremor Genu valgum Single transverse palmar crease Megalencephaly Skin tags Hip dysplasia Thickened skin Wide anterior fontanel Osteolysis Metatarsus adductus Abnormality of neuronal migration Behavioral abnormality Long philtrum Low anterior hairline Thick eyebrow Dilatation Cerebellar hypoplasia Clinodactyly Hypospadias Hypoplasia of the corpus callosum Frontal bossing Hypoplasia of the maxilla Thick lower lip vermilion Tapered finger Delayed puberty Dolichocephaly Melanocytic nevus Microtia Retrognathia Absent speech Neonatal hypotonia Bulbous nose Bone cyst Sparse body hair High pitched voice Joint laxity Osteopenia Aggressive behavior Polymicrogyria Thick vermilion border Autism Highly arched eyebrow Narrow mouth Agenesis of corpus callosum Delayed closure of the anterior fontanelle Facial hypotonia Absent axillary hair Severe global developmental delay Basilar impression Thoracic scoliosis Gastrointestinal dysmotility Anal stenosis Anteriorly placed anus Partial agenesis of the corpus callosum Abnormality of the sternum Broad hallux Multiple joint contractures Posterior polar cataract Posteriorly rotated ears Abnormal glucose tolerance Anxiety Prominent fingertip pads Broad face Rigidity Hyperactivity Dystrophic fingernails Tics Generalized osteoporosis Craniosynostosis Bowing of the legs Frontal upsweep of hair Recurrent ear infections Abnormality of the nasopharynx Ectopic calcification Narrow iliac wings Attention deficit hyperactivity disorder Sagittal craniosynostosis Motor tics Radial deviation of finger Patent ductus arteriosus Triangular face Unsteady gait Pachygyria Optic atrophy Cleft upper lip Open mouth Choanal atresia Split hand Fine hair Epicanthus Intestinal malrotation Prominent nose Lumbar hyperlordosis Syndactyly Webbed neck Constipation Microtia, first degree Aganglionic megacolon Spasticity Impulsivity Optic nerve hypoplasia Chorioretinal coloboma Congenital contracture Pyloric stenosis Torus palatinus Relative macrocephaly Posterior scalloping of vertebral bodies Multiple trichilemmomata Sacral dimple Sensorineural hearing impairment Absent facial hair Cerebral cortical atrophy Narrow palate Calcification of the auricular cartilage Superiorly displaced ears Anal atresia Joint contracture of the hand Dental crowding Increased size of the mandible Abnormal cerebellum morphology Postnatal macrocephaly Transitional cell carcinoma of the bladder Mucosal telangiectasiae Abnormality of the uterus Furrowed tongue Arteriovenous malformation Hydrocele testis Meningioma Prolactin excess Papilledema Abnormality of the vasculature Acrokeratosis Lipoma Progressive macrocephaly Scaphocephaly Hashimoto thyroiditis Renal cell carcinoma Hodgkin lymphoma Thyroiditis Ovarian neoplasm Hyperthyroidism Hamartoma Acute myeloid leukemia Neoplasm of the thyroid gland Fibroadenoma of the breast Pseudopapilledema Colorectal polyposis Enlarged cerebellum Hamartomatous polyposis Subcutaneous lipoma Colonic diverticula Adenoma sebaceum Decreased proportion of CD4-positive T cells Neoplasm of the central nervous system Abnormality of the penis Angioid streaks of the fundus Ovarian carcinoma Generalized hyperkeratosis Fibroma Intestinal polyp Endometrial carcinoma Papilloma Thyroid adenoma Enlarged polycystic ovaries Varicocele Cavernous hemangioma Long penis Cellular immunodeficiency Intestinal polyposis Ovarian cyst Astrocytoma Follicular thyroid carcinoma Cutis marmorata telangiectatica congenita Multiple cafe-au-lait spots Auricular pit Abnormality of the kidney Intention tremor Overgrowth Decreased antibody level in blood Lymphoma Macroglossia Palmoplantar keratoderma Joint hypermobility Nausea and vomiting Papule Leukemia Carcinoma Telangiectasia Recurrent infections Headache Immunodeficiency Conjunctival hamartoma Ductal carcinoma in situ Diarrhea Atrial septal defect Pain Merkel cell skin cancer Muscle weakness Facial wrinkling Subcutaneous nodule Chronic diarrhea Trichilemmoma Thoracic kyphosis Cellulitis Cystic hygroma Multiple lipomas Abnormality of the thyroid gland Macule Hand polydactyly Intracranial hemorrhage Dysdiadochokinesis Incoordination Dysplastic gangliocytoma of the cerebellum Palmoplantar hyperkeratosis Exotropia Goiter Breast carcinoma Melanoma Hypopigmented skin patches Increased intracranial pressure Hemangioma Drooling Cranial nerve paralysis Neoplasm of the skin Lymphopenia Cafe-au-lait spot Progressive gait ataxia Congenital glaucoma Poor coordination Ventriculomegaly Nevus flammeus Limited elbow extension Proximal placement of thumb Widely spaced teeth Long eyelashes Wide nose Toe syndactyly Postnatal growth retardation Abnormality of the cerebral cortex EEG abnormality Aplasia/Hypoplasia of the ribs Phimosis Periventricular gray matter heterotopia Talipes calcaneovalgus Colpocephaly Broad philtrum Prominent metopic ridge Hallux valgus Infantile muscular hypotonia Happy demeanor Blepharophimosis Hypsarrhythmia External genital hypoplasia Shortening of all distal phalanges of the fingers Large earlobe Short 5th finger Ketoacidosis Broad neck Broad foot Hypopituitarism Thickened calvaria Abnormality of the hip bone Hammertoe Joint hyperflexibility Scrotal hypoplasia Narrow palpebral fissure Short toe Hyperpigmentation of the skin Hypertrichosis Hypoplasia of penis Narrow forehead Amenorrhea Oral cleft Short palpebral fissure Wide intermamillary distance Long ear Exercise intolerance Talipes cavus equinovarus Epilepsia partialis continua Increased intramyocellular lipid droplets Generalized tonic seizures Increased CSF lactate Central hypotonia Axonal degeneration Neurodevelopmental delay Brisk reflexes EMG abnormality Intrauterine growth retardation Increased serum lactate Progressive cerebellar ataxia Lactic acidosis Stroke Muscular hypotonia of the trunk Myoclonus Dystonia Cerebellar atrophy Hyperreflexia Focal T2 hypointense basal ganglia lesion Delayed skeletal maturation High, narrow palate Emotional lability Dysmetria Abnormality of the cerebral white matter Low-set, posteriorly rotated ears Hyperkeratosis Short ear Uplifted earlobe Malar prominence Misalignment of teeth Decreased muscle mass Hypogonadotrophic hypogonadism Small for gestational age Poor speech Neurological speech impairment Thin upper lip vermilion Pes planus Primary testicular failure Abdominal obesity Decreased serum testosterone level Increased circulating gonadotropin level Premature ovarian insufficiency Camptodactyly of toe Diabetic ketoacidosis Irregular vertebral endplates Malar flattening Distal amyotrophy Narrow chest Congenital cataract Conductive hearing impairment Diabetes mellitus Babinski sign Areflexia Midface retrusion Microphthalmia Hypertonia Neurodegeneration Anemia Anterior concavity of thoracic vertebrae Cortical irregularity Serpentine fibula Prominent coccyx Broad clavicles Multiple skeletal anomalies Hyperplasia of the maxilla Broad alveolar ridges Short distal phalanx of finger Otitis media Vacuolated lymphocytes Bilateral cryptorchidism Insulin-resistant diabetes mellitus Restlessness Striae distensae Hip contracture Congenital hypothyroidism Basal ganglia calcification Ankle clonus Mixed hearing impairment Anonychia Self-injurious behavior Cerebral calcification Schizophrenia Abnormal palate morphology Spastic paraparesis Knee flexion contracture Paraparesis Clonus Abnormal form of the vertebral bodies Sparse scalp hair Bradykinesia Thoracolumbar kyphosis Anterior segment developmental abnormality Moderately short stature Mandibular prognathia Short palm Smooth philtrum Corneal opacity Short philtrum Camptodactyly of finger Joint stiffness Skeletal dysplasia Kyphoscoliosis High forehead Proptosis Dental malocclusion Glaucoma Hernia Congestive heart failure Talipes equinovarus Scheuermann-like vertebral changes Hypoplasia of the prostate Widely spaced toes Cervical spinal canal stenosis Shortening of all middle phalanges of the fingers Delayed eruption of teeth Mitral valve prolapse Buphthalmos Tricuspid regurgitation Concave nasal ridge Beaking of vertebral bodies Abnormally large globe Genu recurvatum Double outlet right ventricle Premature loss of teeth Megalocornea Aseptic necrosis Flared metaphysis Flat occiput Interphalangeal joint contracture of finger Acne Cholelithiasis Short long bone Abnormality of the metacarpal bones Short chin Wormian bones Gingival overgrowth Short phalanx of finger Bowing of the long bones Lobular carcinoma in situ


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