Intrauterine growth retardation, and Congenital cataract

Diseases related with Intrauterine growth retardation and Congenital cataract

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


Top matches:

High match XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG


For a general description of xeroderma pigmentosum, see XPA (OMIM ), and of Cockayne syndrome, see CSA (OMIM ). Complementation group G has one of the smallest series of cases (Arlett et al., 1980).

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG Is also known as xp, group g|xpgc|xeroderma pigmentosum vii|xp7

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Ataxia
  • Growth delay


SOURCES: MESH OMIM MENDELIAN

More info about XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG

High match CEREBROOCULOFACIOSKELETAL SYNDROME 3; COFS3


Cerebrooculofacioskeletal syndrome is a severe, progressive neurologic disorder characterized by prenatal onset of arthrogryposis, microcephaly, and growth failure. Postnatal features include severe developmental delay, congenital cataracts (in some), and marked UV sensitivity of the skin. Survival beyond 6 years of age is rare. COFS represents the severe end of the spectrum of disorders caused by mutations in nucleotide excision repair (NER) genes, with Cockayne syndrome and xeroderma pigmentosum being milder NER-related phenotypes (summary by Drury et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of cerebrooculofacioskeletal syndrome, see COFS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MESH MENDELIAN

More info about CEREBROOCULOFACIOSKELETAL SYNDROME 3; COFS3

High match CEREBROOCULOFACIOSKELETAL SYNDROME 2; COFS2


Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about CEREBROOCULOFACIOSKELETAL SYNDROME 2; COFS2

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Other less relevant matches:

High match CUTIS LAXA, AUTOSOMAL DOMINANT 3; ADCL3


Autosomal dominant cutis laxa-3 is characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, and moderate intellectual disability. In addition, patients exhibit a combination of muscular hypotonia with brisk muscle reflexes (Fischer-Zirnsak et al., 2015).For a general phenotypic description and discussion of genetic heterogeneity of autosomal dominant cutis laxa, see ARCL1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL DOMINANT 3; ADCL3

High match AUTOSOMAL DOMINANT KENNY-CAFFEY 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

High match HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC


HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC Is also known as hyperferritinemia-cataract syndrome|hyperferritinemia, hereditary, with congenital cataracts|hhcs

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC

High 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

High match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2S


Autosomal recessive limb-girdle muscular dystrophy type 2S (LGMD2S) is a form of limb-girdle muscular dystrophy characterized by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2S Is also known as muscular dystrophy, limb-girdle, type 2s|lgmd2s

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2S

High match WALKER-WARBURG 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

High match CONGENITAL CATARACTS-FACIAL DYSMORPHISM-NEUROPATHY SYNDROME


Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance.

CONGENITAL CATARACTS-FACIAL DYSMORPHISM-NEUROPATHY SYNDROME Is also known as ccfdn|cataract, congenital, with facial dysmorphism and neuropathy

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL CATARACTS-FACIAL DYSMORPHISM-NEUROPATHY SYNDROME

Top 5 symptoms//phenotypes associated to Intrauterine growth retardation and Congenital cataract

Symptoms // Phenotype % cases
Cataract Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Microphthalmia

Uncommon Symptoms - Between 30% and 50% cases


Short stature Flexion contracture Micrognathia Myopia Strabismus Scoliosis Generalized hypotonia Hearing impairment Seizures Tremor Ventriculomegaly Macrocephaly Hypoplasia of penis Cerebral cortical atrophy Cryptorchidism Microcornea Muscular hypotonia Spasticity Decreased testicular size Talipes equinovarus Cutaneous photosensitivity Ataxia Hypertelorism Muscle weakness Cleft palate Low-set ears

Rare Symptoms - Less than 30% cases


High myopia Abnormal facial shape Carious teeth Visual impairment Anemia Wide nasal bridge Macrotia Low-set, posteriorly rotated ears Joint stiffness Anal atresia Abnormality of the liver Peripheral neuropathy Optic atrophy Hyporeflexia Intellectual disability, severe Muscular dystrophy Cerebellar vermis hypoplasia Myopathy Motor delay Elevated serum creatine phosphokinase CNS hypomyelination Abnormal levels of creatine kinase in blood Lissencephaly Proximal muscle weakness Pachygyria Delayed cranial suture closure Myalgia Hydronephrosis Glaucoma Brachycephaly Hypogonadism Kyphosis Cerebellar atrophy Cerebral atrophy Hypoplasia of the corpus callosum Polymicrogyria Chorea Protruding ear Postnatal growth retardation Rocker bottom foot Bilateral microphthalmos Micropenis Corneal opacity Cerebellar hypoplasia Prominent forehead Kyphoscoliosis Deeply set eye Intention tremor Small for gestational age Camptodactyly of finger Pes cavus Frontal bossing Edema Convex nasal ridge Feeding difficulties Interphalangeal joint contracture of finger Scrotal hypoplasia Cleft lip Dilatation Areflexia Proptosis Motor axonal neuropathy Posteriorly rotated ears Decreased serum estradiol Agenesis of corpus callosum Small hand Cleft upper lip Coloboma Retinopathy Microtia Abnormality of the cerebral white matter Oral cleft Genu recurvatum Malignant hyperthermia Iris coloboma Myoglobinuria Retinal dystrophy Abnormality of peripheral nerve conduction Exophoria Blindness Lower limb spasticity Recurrent myoglobinuria Limb-girdle muscular dystrophy Malar prominence Infantile muscular hypotonia Scapular winging Truncal ataxia Upper limb postural tremor Abnormality of the cervical spine Acute rhabdomyolysis Apraxia Generalized-onset seizure Hip dysplasia Focal-onset seizure Waddling gait Gowers sign Impulsivity Hydrocephalus Muscle fiber atrophy Skeletal muscle atrophy Bifid uvula Cerebral white matter atrophy Intellectual disability, borderline Right ventricular dilatation Alacrima Recurrent ear infections Athetosis Speech apraxia Achalasia Motor polyneuropathy Esophagitis Progressive proximal muscle weakness Restrictive ventilatory defect Adrenal insufficiency Retinal detachment Intellectual disability, profound Dandy-Walker malformation Chorioretinal dysplasia Nystagmus Abnormal aldolase level Postural tremor Thick cerebral cortex Aplasia/Hypoplasia involving the skeletal musculature Hypoplastic male external genitalia Abnormal lactate dehydrogenase activity Cognitive impairment Macrogyria Severe hydrocephalus Metatarsus valgus Abnormality of the cerebellar vermis Hypoglycosylation of alpha-dystroglycan Meningoencephalocele Hypogonadotrophic hypogonadism Hypergonadotropic hypogonadism Remnants of the hyaloid vascular system Intellectual disability, mild Sensory neuropathy Dysmetria Abnormal pyramidal sign Hypoglycemia Osteoporosis Babinski sign Polyneuropathy Fever Peripheral demyelination Amenorrhea Abnormality of the dentition Primary amenorrhea Split hand Long eyelashes Abnormality of the skeletal system Posterior fossa cyst Excessive daytime sleepiness Specific learning disability Congenital muscular dystrophy Secondary amenorrhea Abnormality of neuronal migration Rhabdomyolysis Hypoplasia of the brainstem Axonal loss Anophthalmia Congenital contracture Axonal degeneration Atresia of the external auditory canal Optic nerve hypoplasia Severe muscular hypotonia Renal dysplasia Heterotopia Encephalocele Paresthesia Congenital glaucoma Absent septum pellucidum Agyria Buphthalmos Cerebellar cyst Muscle cramps Cerebellar dysplasia Muscle fiber splitting Peters anomaly Aqueductal stenosis Abnormality of the optic nerve Occipital encephalocele Abnormal cortical gyration Retinal dysplasia Bilateral cleft lip Megalocornea Decreased motor nerve conduction velocity Retinal atrophy Submucous cleft hard palate Type II lissencephaly Generalized hirsutism Hepatic steatosis Hypoparathyroidism Failure to thrive Delayed skeletal maturation Severe short stature Hypermetropia Infertility Neutropenia Small nail Increased bone mineral density Hypocalcemia High pitched voice High hypermetropia Basal ganglia calcification Proportionate short stature Papilledema Hyperphosphatemia Dermal translucency Decreased skull ossification Tetany Delayed closure of the anterior fontanelle Persistence of primary teeth Hypocalcemic seizures 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 Small foramen magnum Calcaneovalgus deformity Abnormal circulating follicle-stimulating hormone level Autism Mental deterioration Erythema Broad-based gait Neoplasm of the skin Infantile spasms Defective DNA repair after ultraviolet radiation damage Arthrogryposis multiplex congenita Brain atrophy Decreased fetal movement Sparse hair Single transverse palmar crease Large beaked nose Hernia Inguinal hernia Osteopenia Premature skin wrinkling Aortic regurgitation Spinal canal stenosis Reduced subcutaneous adipose tissue Brisk reflexes Unilateral renal agenesis Adducted thumb Cutis laxa Spontaneous abortion Autistic behavior Wormian bones Thin skin Oligohydramnios Triangular face Hip dislocation Broad forehead Transient hypophosphatemia Abnormality of the medullary cavity of the long bones Inability to walk Hepatomegaly Spastic diplegia Decreased muscle mass Cortical dysplasia Cerebellar vermis atrophy Abnormality of visual evoked potentials Severe postnatal growth retardation Retinal coloboma Abnormal localization of kidney Upper limb spasticity Clitoral hypoplasia Hypoplastic labia minora Frontoparietal polymicrogyria Pain Delayed speech and language development Dysarthria Low anterior hairline Elevated hepatic transaminase Unsteady gait Abnormality of movement Poor speech Generalized tonic-clonic seizures Attention deficit hyperactivity disorder Hyperlordosis EEG abnormality Gait disturbance Difficulty walking Hyperkeratosis Constipation Absent speech Dystonia Fatigue Aplasia/Hypoplasia of the corpus callosum Cerebral visual impairment Downslanted palpebral fissures Abnormality of the elbow Short neck Abnormality of cardiovascular system morphology Clinodactyly of the 5th finger Photophobia Severe global developmental delay Webbed neck Bilateral single transverse palmar creases Abnormality of the fingernails Polycystic ovaries Hypoplastic toenails Non-midline cleft lip Microcytic anemia Iron deficiency anemia Increased serum ferritin Ectopic anus Abnormality of retinal pigmentation Short philtrum Postnatal microcephaly Spastic tetraplegia Tetraplegia Abnormal cerebellum morphology Hirsutism Delayed puberty Muscular hypotonia of the trunk Nuclear cataract Narrow mouth Short nose Anteverted nares High palate Ptosis Pulverulent cataract Peripheral hypomyelination



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