Growth delay, and Microcornea

Diseases related with Growth delay and Microcornea

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

Top matches:

X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome is a rare syndromic microphthalmia disorder characterized by microphthalmia with coloboma (which may involve the iris, cilary body, choroid, retina and/or optic nerve), microcephaly, short stature and intellectual disability. Other eye abnormalities such as pendular nystagmus, esotropia and ptosis may also be present. Additional associated abnormalities include kyphoscoliosis, anteverted pinnae with minimal convolutions, diastema of the incisors and congenital pes varus.

X-LINKED COLOBOMATOUS MICROPHTHALMIA-MICROCEPHALY-INTELLECTUAL DISABILITY-SHORT STATURE SYNDROME Is also known as maine microphthalmos|colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation|x-linked colobomatous microphthalmia-microcephaly-short stature-psychomotor retardation syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED COLOBOMATOUS MICROPHTHALMIA-MICROCEPHALY-INTELLECTUAL DISABILITY-SHORT STATURE SYNDROME

Microcephaly and chorioretinopathy-2 is an autosomal recessive developmental disorder characterized by delayed psychomotor development, visual impairment, and short stature (summary by Martin et al., 2014).For a discussion of genetic heterogeneity of microcephaly and chorioretinopathy, see MCCRP1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2; MCCRP2

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Nystagmus
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE; TTD6

Other less relevant matches:

Medium match COLOBOMA OF IRIS

Coloboma is an ocular birth defect resulting from abnormal development of the eye during embryogenesis. It is defined as a congenital defect in any ocular tissue, typically presenting as absent tissue or a gap, at a site consistent with aberrant closure of the optic fissure. Failure of fusion can lead to coloboma of one or multiple regions of the inferior portion of the eye affecting any part of the globe traversed by the fissure, from the iris to the optic nerve, including the ciliary body, retina, and choroid. Coloboma is also frequently associated with small (microphthalmic) or absent (anophthalmic) eyes as part of an interrelated spectrum of developmental eye anomalies, and can affect either one or both eyes (summary by Kelberman et al., 2014). Genetic Heterogeneity of Ocular ColobomaA recessive form of ocular coloboma (OMIM ) is caused by mutation in the SALL2 gene (OMIM ) on chromosome 14q11.

COLOBOMA OF IRIS Is also known as coloboma of iris, choroid, and retina|coi|coloboma, uveoretinal

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Growth delay
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET OMIM MENDELIAN

More info about COLOBOMA OF IRIS

Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present.

COLOBOMATOUS MICROPHTHALMIA-RHIZOMELIC DYSPLASIA SYNDROME Is also known as microphthalmia or coloboma with or without rhizomelic skeletal dysplasia|microphthalmia, syndromic 14|microphthalmia-coloboma-rhizomelic skeletal dysplasia|mcops14

Related symptoms:

  • Intellectual disability
  • Nystagmus
  • Strabismus
  • Abnormal facial shape
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about COLOBOMATOUS MICROPHTHALMIA-RHIZOMELIC DYSPLASIA SYNDROME

WARBURG MICRO SYNDROME 2; WARBM2 Is also known as micro syndrome 2

Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Cataract
  • Cryptorchidism
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about WARBURG MICRO SYNDROME 2; WARBM2

Abruzzo-Erickson syndrome is a multiple congenital anomalies syndrome characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis.

ABRUZZO-ERICKSON SYNDROME Is also known as cleft palate-coloboma-deafness syndrome|charge-like syndrome|charge-like syndrome, x-linked

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ABRUZZO-ERICKSON SYNDROME

Medium match WAGR SYNDROME

WAGR syndrome (Wilms tumor - aniridia - genitourinary anomalies - intellectual disability mental retardation) is a rare genetic disorder characterized by an unusual complex of congenital developmental abnormalities with intellectual disability, and an increased risk of developing Wilms tumor.

WAGR SYNDROME Is also known as del(11)(p13)|chromosome 11p13 deletion syndrome|wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome|monosomy 11p13|deletion 11p13|wagr syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about WAGR SYNDROME

OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE Is also known as odod, autosomal recessive|oculodentoosseous dysplasia, autosomal recessive|oddd, autosomal recessive

Related symptoms:

  • Global developmental delay
  • Short stature
  • Failure to thrive
  • Micrognathia
  • Cataract


SOURCES: OMIM MESH MENDELIAN

More info about OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE

Congenital symmetric circumferential skin creases is characterized by the folding of excess skin, which leads to ringed creases, primarily of the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features (summary by Isrie et al., 2015).For a discussion of genetic heterogeneity of congenital symmetric circumferential skin creases, see CSCSC1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2; CSCSC2

Top 5 symptoms//phenotypes associated to Growth delay and Microcornea

Symptoms // Phenotype % cases
Microphthalmia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Growth delay and Microcornea. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Cryptorchidism Nystagmus Cataract Hypospadias Coloboma Epicanthus Micrognathia Chorioretinal coloboma Ptosis

Rare Symptoms - Less than 30% cases

Narrow mouth Glaucoma Intellectual disability, moderate Scrotal hypoplasia Hypertelorism Abnormal facial shape Macrotia Brachycephaly Low-set ears Delayed speech and language development Short palpebral fissure Postnatal growth retardation Corneal opacity Iris coloboma Hypoplasia of the corpus callosum Downslanted palpebral fissures Syndactyly Delayed skeletal maturation Flexion contracture Peters anomaly Pes cavus Pes planus Motor delay Abnormality of the dentition Abnormality of the pinna Esotropia Seizures Strabismus Visual impairment Optic atrophy Flat face Toe syndactyly Cleft palate Hearing impairment Abnormal vagina morphology Obesity Long philtrum Nephroblastoma Small hand Clinodactyly Cardiomyopathy Renal insufficiency Renal neoplasm Acute lymphoblastic leukemia Deeply set eye Neoplasm Telecanthus Thin vermilion border Frontal bossing Hypertrophic cardiomyopathy Hemihypertrophy Failure to thrive Streak ovary Displacement of the external urethral meatus Abnormality of the genitourinary system Abnormality of the genital system Dysfunction of lateral corticospinal tracts Gonadoblastoma Ambiguous genitalia Aplasia/Hypoplasia of the iris Everted lower lip vermilion Nephropathy Aniridia Leukemia Abnormality of the uterus Myopia Hearing abnormality Large fontanelles Short foot Upslanted palpebral fissure Fifth finger distal phalanx clinodactyly 4-5 finger syndactyly 2-4 toe cutaneous syndactyly Generalized hypotonia Wide nasal bridge Short neck Midface retrusion Pectus excavatum Posteriorly rotated ears Osteopenia Persistent pupillary membrane Low-set, posteriorly rotated ears Blepharophimosis Microtia Carious teeth Short palm Tapered finger Wide intermamillary distance Microdontia Overfolded helix Broad neck Macrodontia of permanent maxillary central incisor Broad long bones Delayed eruption of teeth Abnormality of dental enamel Hypoplasia of the maxilla Triangular face Dental malocclusion Underdeveloped nasal alae Overgrowth Fine hair Sparse scalp hair Coronal hypospadias Dental crowding Sparse eyelashes Cranial hyperostosis Abnormality of dental morphology Hyperostosis Long nose Basal ganglia calcification Narrow nose Spinal cord compression Mild global developmental delay Large earlobe Hypoplasia of teeth Cutaneous syndactyly of toes Scoliosis Global brain atrophy Dimple chin Hypertension Coxa valga Brittle hair Coronal craniosynostosis Slow-growing hair Long-tract signs Mild intrauterine growth retardation Tiger tail banding Spasticity Ventriculomegaly Bilateral sensorineural hearing impairment Dilatation Agenesis of corpus callosum Reduced visual acuity Vesicoureteral reflux Aganglionic megacolon Aortic aneurysm Increased intraocular pressure Optic nerve coloboma Broad-based gait Ichthyosis Morning glory anomaly Severe short stature Kyphoscoliosis Pendular nystagmus Diastema Anteverted ears Intrauterine growth retardation Cerebellar atrophy Cerebral atrophy Cerebellar hypoplasia Proptosis Dry skin Retinopathy Prominent nose Sloping forehead Optic disc pallor Optic nerve hypoplasia Hypoplasia of the brainstem Cortical gyral simplification Macular atrophy Small for gestational age Remnants of the hyaloid vascular system Optic nerve aplasia Abnormal localization of kidney Atrial septal defect Low anterior hairline Overlapping toe Spastic diplegia Hypoplastic labia majora Asymmetry of the ears Undetectable visual evoked potentials Sensorineural hearing impairment Brachydactyly Malar flattening Polymicrogyria Conductive hearing impairment Protruding ear Facial asymmetry Choanal atresia Short toe Abnormal palate morphology Radioulnar synostosis Ulnar deviation of finger Postnatal microcephaly Congenital cataract Macrocephaly Anophthalmia Prominent forehead Skeletal dysplasia Retinal detachment Long eyelashes Rhizomelia Knee flexion contracture Deep philtrum Precocious puberty Sclerocornea Severe global developmental delay Ectopia pupillae Periorbital fullness Monocular strabismus Intellectual disability, severe Short nose Absent speech Micropenis Muscular hypotonia of the trunk Prominent nasal bridge Ureterocele


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