Intrauterine growth retardation, and Glaucoma

Diseases related with Intrauterine growth retardation and Glaucoma

In the following list you will find some of the most common rare diseases related to Intrauterine growth retardation and Glaucoma that can help you solving undiagnosed cases.

Top matches:

Immunodeficiency-55 is an autosomal recessive primary immunodeficiency characterized by intrauterine growth retardation, natural killer (NK) cell deficiency, and chronic neutropenia. Most patients also have postnatal growth retardation. Other clinical manifestations include mild facial dysmorphism, dry or eczematous skin, and recurrent infections with both viruses and bacteria. The disorder appears to result from a defect in DNA replication causing blockade of immune cell differentiation in the bone marrow, particularly affecting NK cells (summary by Cottineau et al., 2017).

COMBINED IMMUNODEFICIENCY DUE TO GINS1 DEFICIENCY Is also known as cid due to gins1 deficiency|combined immunodeficiency with intrauterine growth retardation-natural killer cell deficiency-neutropenia|combined immunodeficiency with intrauterine growth retardation-nk cell deficiency-neutropenia

Related symptoms:

  • Growth delay
  • Abnormal facial shape
  • Anemia
  • Intrauterine growth retardation
  • Blindness


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO GINS1 DEFICIENCY

Medium match SECKEL SYNDROME

Seckel syndrome is a type of microcephalic primordial dwarfism that is characterized by a proportionate dwarfism of prenatal onset, a severe microcephaly, a typical dysmorphic face (bird-like), and mild to severe intellectual disability.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Micrognathia


SOURCES: ORPHANET MENDELIAN

More info about SECKEL SYNDROME

Autosomal recessive chorioretinopathy-microcephaly syndrome is a rare neuro-opthalmological disease characterized by severe microcephaly of prenatal onset (with diminutive anterior fontanelle and sutural ridging), growth retardation, global developmental delay and intellectual disability (ranging from mild to profound), dysmorphic features (sloping forehead, micro/retrognathia, prominent ears) and visual impairments (including microphthalmia to anophtalmia, generalized retinopathy or multiple punched-out retinal lesions, retinal folds with retinal detachment, optic nerve hypoplasia, strabismus, nystagmus). Brain MRI may show reduced cortical size, cerebral hemispheres, corpus callosum, pachygyria, symplified gyral folding or normal pattern. Other associated features include epilepsy and neurological deficits.

AUTOSOMAL RECESSIVE CHORIORETINOPATHY-MICROCEPHALY SYNDROME Is also known as autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CHORIORETINOPATHY-MICROCEPHALY SYNDROME

Other less relevant matches:

De Barsy syndrome, also known as autosomal recessive cutis laxa type III (ARCL3), is a rare autosomal recessive disorder characterized by an aged appearance with distinctive facial features, sparse hair, ophthalmologic abnormalities, intrauterine growth retardation (IUGR), and cutis laxa (summary by Lin et al., 2011).For a phenotypic description and a discussion of genetic heterogeneity of de Barsy syndrome, see {219150}.For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see {219200}.

PYCR1-RELATED DE BARSY SYNDROME Is also known as pycr1 deficiency|pyrroline-5-carboxylate reductase 1 deficiency|de barsy syndrome b

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Hypertelorism
  • Cryptorchidism
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about PYCR1-RELATED DE BARSY SYNDROME

A syndrome associating neonatal diabetes, congenital hypothyroidism, congenital glaucoma, hepatopathy evolving to fibrosis and polykystic kidneys has been described in two sibs. Minor facial anomalies were also observed. Two other families presented incomplete forms of this syndrome. Mutations in GLIS3 encoding for the transcription factor GLI similar 3 seem to be responsible of the syndrome.

NEONATAL DIABETES-CONGENITAL HYPOTHYROIDISM-CONGENITAL GLAUCOMA-HEPATIC FIBROSIS-POLYCYSTIC KIDNEYS SYNDROME Is also known as ndh syndrome

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about NEONATAL DIABETES-CONGENITAL HYPOTHYROIDISM-CONGENITAL GLAUCOMA-HEPATIC FIBROSIS-POLYCYSTIC KIDNEYS SYNDROME

Congenital disorder of glycosylation with defective fucosylation is an autosomal recessive multisystemic disorder apparent from birth. Affected infants have poor growth, failure to thrive, hypotonia, skeletal anomalies, and delayed psychomotor development with intellectual disability. Additional highly variable congenital defects may be observed (summary by Ng et al., 2018).For an overview of congenital disorders of glycosylation (CDG), see CDG1A (OMIM ) and CDG2A (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION; CDGF

Medium match MICRO SYNDROME

Micro syndrome is an autosomal recessive disorder caracterised by ocular and neurodevelopmental defects and by microgenitalia. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism.

MICRO SYNDROME Is also known as warbm|warburg micro syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICRO SYNDROME

Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities.

WALKER-WARBURG SYNDROME Is also known as hard syndrome|cerebroocular dysplasia-muscular dystrophy syndrome|hydrocephalus, agyria, and retinal dysplasia|walker-warburg syndrome or muscle-eye-brain disease, pomt1-related|wws|hydrocephalus-agyria-retinal dysplasia syndrome|cod-md syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about WALKER-WARBURG SYNDROME

Medium match SHORT SYNDROME

SHORT syndrome is a rare inherited condition of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly (see this term) and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, are manifestations of the disease.

SHORT SYNDROME Is also known as lipodystrophy-rieger anomaly-diabetes syndrome|short stature, hyperextensibility, hernia, ocular depression, rieger anomaly, and teething delay|aarskog-ose-pande syndrome|lipodystrophy, partial, with rieger anomaly and short stature|rieger anomaly-partial

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SHORT SYNDROME

Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment.

CONGENITAL MUSCULAR DYSTROPHY, FUKUYAMA TYPE Is also known as walker-warburg syndrome or muscle-eye-brain disease, fktn-related|fukuyama congenital muscular dystrophy|fcmd

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY, FUKUYAMA TYPE

Top 5 symptoms//phenotypes associated to Intrauterine growth retardation and Glaucoma

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Growth delay Uncommon - Between 30% and 50% cases
Congenital glaucoma Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Intrauterine growth retardation and Glaucoma. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Seizures Generalized hypotonia Cataract Short stature Flexion contracture Hip dislocation Pachygyria Abnormal facial shape Scoliosis Buphthalmos Optic atrophy Wide nasal bridge Intellectual disability, severe Microphthalmia Visual impairment Low-set ears Cerebellar hypoplasia Delayed speech and language development Retinal detachment Atrial septal defect Muscular hypotonia Micrognathia Deeply set eye Cryptorchidism Hernia Hypertelorism Congenital cataract Polymicrogyria Microcornea Lissencephaly Myopia Cerebellar vermis hypoplasia Macrocephaly Hypothyroidism

Rare Symptoms - Less than 30% cases

Hydronephrosis Congenital hip dislocation Muscle weakness Excessive wrinkled skin Skeletal muscle atrophy Frontal bossing Corneal opacity Ventriculomegaly Hydrocephalus Thin skin Underdeveloped nasal alae Encephalocele Myopathy Prominent forehead Posteriorly rotated ears Inguinal hernia Dilatation Areflexia Elevated serum creatine phosphokinase Agenesis of corpus callosum Abnormality of the cerebral white matter Hearing impairment Abnormality of the skeletal system Sensorineural hearing impairment Hirsutism Megalocornea Macrotia Brachycephaly Hypoplasia of the corpus callosum Cerebellar dysplasia Type II lissencephaly Abnormal cerebellum morphology Chorioretinal dysplasia Nephrocalcinosis Agyria Hypoglycosylation of alpha-dystroglycan Cortical dysplasia Short nose High palate Failure to thrive Hypoplasia of penis Bilateral sensorineural hearing impairment Osteopenia Diabetes mellitus Hypoplasia of the brainstem Congenital muscular dystrophy Retinal dysplasia Aplasia/Hypoplasia of the corpus callosum Cerebellar cyst Muscular dystrophy Joint hyperflexibility Protruding ear Neutropenia Delayed skeletal maturation Spasticity Retinal dystrophy Craniosynostosis Cerebral cortical atrophy Abnormality of dental enamel Abnormality of retinal pigmentation Retinopathy Respiratory failure Recurrent infections Nystagmus Abnormality of neuronal migration Blindness Anteverted nares Strabismus Bradycardia Preauricular skin tag Bilateral cleft lip Premature skin wrinkling EMG abnormality Retinal atrophy Hemivertebrae Knee flexion contracture Holoprosencephaly Submucous cleft hard palate Brain atrophy Aqueductal stenosis Generalized muscle weakness Dolichocephaly Posterior fossa cyst Remnants of the hyaloid vascular system Abnormality of the pinna Excessive daytime sleepiness Camptodactyly of finger Dilated cardiomyopathy Arthrogryposis multiplex congenita Pulmonic stenosis Muscle fiber splitting Peters anomaly Plagiocephaly Hypermetropia Abnormality of the optic nerve Abnormal cortical gyration Occipital encephalocele Calf muscle hypertrophy Absent septum pellucidum Bifid uvula Cephalocele Thoracic hemivertebrae Anal atresia Exaggerated startle response Myocardial fibrosis Ankle contracture Anencephaly Atrophy/Degeneration affecting the brainstem Weak cry Transposition of the great arteries Cleft upper lip Oral cleft Iris coloboma Dandy-Walker malformation Mask-like facies Specific learning disability Intellectual disability, profound Spinal rigidity Heterotopia Renal dysplasia Generalized amyotrophy Severe muscular hypotonia Optic nerve hypoplasia Atresia of the external auditory canal Multiple joint contractures Congenital contracture Increased variability in muscle fiber diameter Anophthalmia Skeletal muscle hypertrophy Meningoencephalocele Rigidity Abnormal levels of creatine kinase in blood Insulin resistance Lipodystrophy Prominent supraorbital ridges Opacification of the corneal stroma Short chin Hypoplastic facial bones Abnormality of the zygomatic bone Decreased body weight Hyperglycemia Motor delay Abnormality of the face Microdontia Abnormality of the skin Dental malocclusion Gait disturbance Radial deviation of finger Glucose intolerance Hypodontia Narrow naris Hypoplasia of the iris Posterior embryotoxon Insulin-resistant diabetes mellitus Abnormal pupil morphology Dimple chin Abnormal anterior chamber morphology Abnormality of the mandible Birth length less than 3rd percentile Rieger anomaly Enlarged epiphyses Poor appetite Abnormality of the immune system Lipoatrophy Reduced subcutaneous adipose tissue Triangular face Delayed eruption of teeth Abnormality of the cerebellar vermis Hypoplastic male external genitalia Abnormality of the dentition Brachydactyly Abnormal aldolase level Thick cerebral cortex EEG abnormality Aplasia/Hypoplasia involving the skeletal musculature Abnormal lactate dehydrogenase activity Midface retrusion Macrogyria Severe hydrocephalus Increased intraocular pressure Neonatal hypotonia Metatarsus valgus Apnea Malar flattening Depressivity Respiratory insufficiency Small for gestational age Respiratory distress Downturned corners of mouth Short palm Joint hypermobility Hypotrichosis Neurological speech impairment Telecanthus Clinodactyly Joint laxity Weight loss Pectus excavatum Severe short stature Alopecia Abnormal heart morphology Increased body weight Short philtrum Microtia Sloping forehead Cortical gyral simplification Aplasia/Hypoplasia of the cerebellum Cone/cone-rod dystrophy Pointed chin Lymphedema Optic disc pallor Pigmentary retinopathy Abnormal eyelash morphology Abnormality of skin pigmentation Cerebral atrophy Hypertonia Hyperreflexia Absent earlobe Abnormality of earlobe Biparietal narrowing Vitreoretinopathy Prematurely aged appearance Elbow flexion contracture Dermal translucency Narrow nasal ridge Athetosis Pyloric stenosis Cutis laxa Narrow palpebral fissure Large fontanelles Retinal fold Fine hair Blue sclerae Thin vermilion border Blepharophimosis Sparse hair Pes planus Osteoporosis Mild global developmental delay Cone-shaped epiphysis Hypertension Hemolytic anemia Abnormal intestine morphology Lymphopenia Bronchiectasis Abnormal lung morphology Inflammatory abnormality of the skin Eczema Lymphadenopathy Myelodysplasia Ichthyosis Dry skin Respiratory tract infection Postnatal growth retardation Immunodeficiency Diarrhea Anemia Recurrent skin infections Erythroderma Cachexia Clinodactyly of the 5th finger Reduced number of teeth Sandal gap Narrow face Sparse scalp hair Convex nasal ridge Hip dysplasia Downslanted palpebral fissures Autoimmune hemolytic anemia Cognitive impairment Erythroid dysplasia Folliculitis Protein-losing enteropathy Osteosarcoma Severe intrauterine growth retardation Atopic dermatitis Depressed nasal bridge Epicanthus Coloboma Low-set, posteriorly rotated ears Postnatal microcephaly Spastic tetraplegia Decreased testicular size Tetraplegia Delayed puberty Joint stiffness Muscular hypotonia of the trunk Low anterior hairline Narrow mouth Micropenis Hypogonadism Kyphosis Cerebellar atrophy Peripheral neuropathy Ptosis Cerebral visual impairment Generalized hirsutism Narrow forehead Clitoral hypoplasia Cleft lip Proptosis Hyporeflexia Cleft palate Frontoparietal polymicrogyria Hypoplastic labia minora Upper limb spasticity Scrotal hypoplasia Abnormal localization of kidney Retinal coloboma Severe postnatal growth retardation Abnormality of visual evoked potentials Cerebellar vermis atrophy Decreased muscle mass Spastic diplegia Congenital neutropenia Limb undergrowth Hepatomegaly Cirrhosis Hepatic fibrosis Cholestasis Choanal atresia Hepatitis Sepsis Renal cyst Abnormality of the liver Polycystic kidney dysplasia Hyperlordosis Abnormality of the kidney Thin upper lip vermilion Umbilical hernia Pneumonia Long philtrum Splenomegaly Wide anterior fontanel Portal hypertension Severe global developmental delay Splenic cyst Broad forehead Hypoglycemia Retrognathia Kyphoscoliosis Polyhydramnios Feeding difficulties Pancreatic hypoplasia Congenital hypothyroidism Pancreatic cysts Cystic renal dysplasia Sagittal craniosynostosis Esophageal varix Thoracolumbar scoliosis Hiatus hernia Enlarged kidney Hypoplasia of the pyramidal tract


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