Intrauterine growth retardation, and Coloboma

Diseases related with Intrauterine growth retardation and Coloboma

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


Top matches:

Medium match JOUBERT SYNDROME 22; JBTS22


Related symptoms:

  • Global developmental delay
  • Growth delay
  • Abnormal facial shape
  • Intrauterine growth retardation
  • Syndactyly


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 22; JBTS22

Medium match CHONDRODYSPLASIA-DISORDER OF SEX DEVELOPMENT SYNDROME


Chondrodysplasia - disorder of sex development is an extremely rare disorder of sex development (see this term), reported in only two siblings (one terminated in pregnancy) to date, characterized by the clinical features of 46,XY complete gonadal dysgenesis (see this term; normal external female genitalia, lack of pubertal development, primary amenorrhea, and hypergonadotrophic hypogonadism) in association with severe dwarfism with generalized chondrodysplasia (bell-shaped thorax, micromelia, brachydactyly). Other reported features in the live sibling included eye anomalies (hypoplastic irides, myopia, coloboma of optic discs), dysmorphic features (deep-set eyes, upslanting palpebral fissures, puffy eyelids, large ears and mouth, mild prognathism), muscular hypoplasia, mild intellectual deficiency and severe microcephaly with cerebellar vermis hypoplasia. An autosomal recessive inheritance has been suggested.

CHONDRODYSPLASIA-DISORDER OF SEX DEVELOPMENT SYNDROME Is also known as nivelon-nivelon-mabille syndrome

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Growth delay
  • Strabismus
  • Intrauterine growth retardation


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CHONDRODYSPLASIA-DISORDER OF SEX DEVELOPMENT SYNDROME

Medium 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

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Other less relevant matches:

Medium match WARSAW BREAKAGE SYNDROME


A condition with multiple abnormalities including mild to severe intellectual disability, impaired growth from birth leading to short stature, and microcephaly. Affected individuals may also have distinctive facial features (including a small forehead, a short nose, a small lower jaw, a flat area between the nose and mouth (philtrum), and prominent cheeks), sensorineural hearing loss, and heart malformations

WARSAW BREAKAGE SYNDROME Is also known as wabs

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about WARSAW BREAKAGE SYNDROME

Medium match NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART; NEDBEH


Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart is an autosomal dominant syndrome characterized by onset in infancy of developmental delay, intellectual disability, and behavioral disorders, such as autism spectrum disorders. About half of patients have additional abnormalities, most commonly involving the eye, heart, and genitourinary system. The phenotype is reminiscent of that observed in patients with 1p36 deletion syndrome (OMIM ); RERE is located in the proximal 1p36 critical region (summary by Fregeau et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART; NEDBEH

Medium match ACROFACIAL DYSOSTOSIS, RODRÍGUEZ TYPE


Acrofacial dysostosis Rodriguez type is a multiple malformative syndrome in which mandibulofacial dysostosis and severe limb reduction defects are associated with complex malformations of different organs and systems especially the CNS, urogenital tract, heart, and lungs. The mandibulofacial defect, characterized by extremely severe microretrognathism and cleft palate, causes death by respiratory distress. Limb reduction is severe and includes shoulder and pelvis hypoplasia, phocomelia with humerus hypoplasia, absent radius and ulna, complete absence of long bones of the legs, and various hand anomalies, predominantly preaxial reduction (absent thumbs). Other features include CNS malformations (agenesis of corpus callosum and acqueductal stenosis), lung anomalies (absent lung lobulation), complex cardiac malformations, and unicornis uterus. These infants also show facial dysmorphism and ear anomalies. The condition is a rare with an autosomal recessive mode of inheritance. The prognosis is poor and this condition leads to death in utero or shortly after birth.

ACROFACIAL DYSOSTOSIS, RODRÍGUEZ TYPE Is also known as rodriguez lethal acrofacial dysostosis syndrome

Related symptoms:

  • Short stature
  • Hypertelorism
  • Micrognathia
  • Cleft palate
  • Low-set ears


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about ACROFACIAL DYSOSTOSIS, RODRÍGUEZ TYPE

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

Medium match SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR SYNDROME


Solitary median maxillary central incisor syndrome (SMMCI) is a complex disorder consisting of multiple, mainly midline, defects of development resulting from unknown factor(s) operating in utero from about the 35th-38th day after conception.

SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR SYNDROME Is also known as single central maxillary incisor|smmci|fused incisors|single upper central incisor|incisors, fused

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR SYNDROME

Medium 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

Medium match GALLOWAY-MOWAT SYNDROME 3; GAMOS3


Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities of the brain, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME 3; GAMOS3

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

Symptoms // Phenotype % cases
Growth delay Common - Between 50% and 80% 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
Microphthalmia Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Cryptorchidism Short stature Strabismus Low-set ears Deeply set eye Cerebellar vermis hypoplasia Seizures Hypoplasia of the corpus callosum Micrognathia Anteverted nares Cleft palate Lissencephaly Scoliosis Hearing impairment Hypertelorism Visual impairment Iris coloboma Pachygyria Epicanthus Narrow mouth Optic atrophy Hypoplasia of penis Short nose Posteriorly rotated ears Ventriculomegaly High palate Intellectual disability, severe Abnormal facial shape Short philtrum

Rare Symptoms - Less than 30% cases


Microtia Single transverse palmar crease Severe short stature Ventricular septal defect Cleft lip Flexion contracture Retinal dysplasia Clinodactyly Postnatal growth retardation Microcornea Cleft upper lip Tetralogy of Fallot Aqueductal stenosis Sloping forehead Polymicrogyria Cerebellar atrophy Congenital cataract Specific learning disability Hydronephrosis Glaucoma Renal hypoplasia Postaxial hand polydactyly Syndactyly Low-set, posteriorly rotated ears Macrotia Blepharophimosis Ichthyosis Muscular hypotonia Cataract Wide nasal bridge Anophthalmia Abnormality of pelvic girdle bone morphology Cerebellar hypoplasia Hydrocephalus Postnatal microcephaly Protruding ear Frontal bossing Downslanted palpebral fissures Decreased testicular size Optic nerve hypoplasia Cerebral visual impairment Spasticity Renal dysplasia Convex nasal ridge Vesicoureteral reflux Agenesis of corpus callosum Corneal opacity Elevated serum creatine phosphokinase Retinopathy Blindness Muscular dystrophy Hyporeflexia Proptosis Dilatation Abnormality of the cerebral white matter Anal atresia Areflexia Myopathy Hypothalamic hamartoma Macrocephaly Abnormality of chromosome segregation Ambiguous genitalia Depressed nasal ridge Choanal atresia Holoprosencephaly Hemangioma EMG: myopathic abnormalities Anosmia Tented upper lip vermilion Precocious puberty Narrow nasal bridge Hamartoma Median cleft lip Maternal diabetes Duodenal atresia Hyposmia Skeletal muscle atrophy Panhypopituitarism Nasal obstruction Single median maxillary incisor Abnormality of the nasopharynx Cyclopia Semilobar holoprosencephaly Retinal dystrophy Torus palatinus Single naris Prominent median palatal raphe Pyriform aperture stenosis Midnasal stenosis Muscle weakness Myopia Oral cleft Peters anomaly Retinal detachment Hip dislocation Chorioretinal dysplasia Hypoplastic male external genitalia Aplasia/Hypoplasia involving the skeletal musculature Thick cerebral cortex Abnormal aldolase level Nystagmus Failure to thrive Delayed speech and language development Edema Cerebral atrophy Midface retrusion Pectus excavatum Proteinuria Camptodactyly Arachnodactyly Macrogyria Glomerulosclerosis Diffuse mesangial sclerosis Hand clenching Corpus callosum atrophy Cortical gyral simplification Hypoplastic left heart Focal segmental glomerulosclerosis Hypoalbuminemia Stage 5 chronic kidney disease Hypocalcemia Leukodystrophy Coarctation of aorta Nephrotic syndrome Oligohydramnios Narrow forehead Abnormal lactate dehydrogenase activity Severe hydrocephalus Bifid uvula Congenital muscular dystrophy Submucous cleft hard palate Occipital encephalocele Absent septum pellucidum Congenital glaucoma Abnormality of neuronal migration Hypoplasia of the brainstem Congenital contracture Megalocornea Atresia of the external auditory canal Severe muscular hypotonia Heterotopia Encephalocele Intellectual disability, profound Dandy-Walker malformation Retinal atrophy Bilateral cleft lip Metatarsus valgus Excessive daytime sleepiness Abnormality of the cerebellar vermis Abnormal levels of creatine kinase in blood Hypoglycosylation of alpha-dystroglycan Meningoencephalocele Posterior fossa cyst Remnants of the hyaloid vascular system Agyria Abnormal cortical gyration Cerebellar cyst Type II lissencephaly Cerebellar dysplasia Muscle fiber splitting Buphthalmos Abnormality of the optic nerve Hypotelorism Joint stiffness Renal agenesis Premature chromatid separation Short neck Congestive heart failure Wide mouth Smooth philtrum Abnormality of skin pigmentation Bilateral sensorineural hearing impairment Cupped ear Cutis marmorata 2-3 toe syndactyly Chromosome breakage Optic nerve coloboma Small face Hypoplasia of the cochlea Hypoplasia of the bladder Feeding difficulties Dysarthria Behavioral abnormality Hypospadias Abnormal heart morphology Autism Gastroesophageal reflux Autistic behavior Broad eyebrow Talipes equinovarus Malar flattening Abnormality of cardiovascular system morphology Sensorineural hearing impairment Abnormality of brain morphology Finger syndactyly Hypoplasia of the iris Polydactyly Postaxial polydactyly Molar tooth sign on MRI Foot polydactyly Postaxial foot polydactyly Undetectable electroretinogram Telecanthus Narrow chest Micromelia Short metacarpal Short phalanx of finger Chorioretinal coloboma Male pseudohermaphroditism Plagiocephaly Bell-shaped thorax Abnormality of the clavicle Miosis Abnormality of the shoulder Broad long bones Brain very small Trapezoidal shaped vertebral bodies Increased skull ossification Alopecia Hypotrichosis Aganglionic megacolon Hemivertebrae Prominent nasal bridge Prominent nose Growth hormone deficiency Cerebellar vermis atrophy Hirsutism Abnormal cerebellum morphology Tetraplegia Spastic tetraplegia Abnormality of retinal pigmentation Low anterior hairline Generalized hirsutism Aplasia/Hypoplasia of the corpus callosum Scrotal hypoplasia Spastic diplegia Decreased muscle mass Cortical dysplasia Abnormality of visual evoked potentials Muscular hypotonia of the trunk Severe postnatal growth retardation Retinal coloboma Abnormal localization of kidney Upper limb spasticity Clitoral hypoplasia Hypoplastic labia minora Frontoparietal polymicrogyria Intellectual disability, mild Hypothyroidism Asthma Ectodermal dysplasia Premature birth Delayed puberty Micropenis Abnormal form of the vertebral bodies Sprengel anomaly Thin skin Wide anterior fontanel Microretrognathia Renal hypoplasia/aplasia Radioulnar synostosis Triphalangeal thumb Overlapping toe Supernumerary nipple Short humerus Oligodactyly Aplasia/Hypoplasia of the radius Fibular hypoplasia Short tibia Cerebral cortical atrophy Abnormality of the uterus 11 pairs of ribs Hand oligodactyly Phocomelia Arrhinencephaly Aplasia/Hypoplasia of the ulna Deep-set nails Absent forearm Ptosis Peripheral neuropathy Kyphosis Hypogonadism Brachycephaly Hypertensive crisis



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