Microphthalmia, and Abnormality of the genital system

Diseases related with Microphthalmia and Abnormality of the genital system

In the following list you will find some of the most common rare diseases related to Microphthalmia and Abnormality of the genital system that can help you solving undiagnosed cases.


Top matches:

Low match NANOPHTHALMIA


Nanophthalmia is a severe form of microphthalmia characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma.

Related symptoms:

  • Strabismus
  • Microphthalmia
  • Glaucoma
  • Abnormality of retinal pigmentation
  • High hypermetropia


SOURCES: ORPHANET MENDELIAN

More info about NANOPHTHALMIA

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Other less relevant matches:

Low match MICROPHTHALMIA, ISOLATED 4; MCOP4


Related symptoms:

  • Microphthalmia
  • Coloboma
  • Postaxial polydactyly
  • Absent testis


SOURCES: OMIM MENDELIAN

More info about MICROPHTHALMIA, ISOLATED 4; MCOP4

Low match MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 3; MCOPCB3


MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 3; MCOPCB3 Is also known as microphthalmia, colobomatous, isolated 3

Related symptoms:

  • Cataract
  • Cryptorchidism
  • Microphthalmia
  • Coloboma
  • Congenital cataract


SOURCES: OMIM MENDELIAN

More info about MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 3; MCOPCB3

Low match PREMATURE OVARIAN FAILURE 12; POF12


Related symptoms:

  • Microphthalmia
  • Amenorrhea
  • Primary amenorrhea
  • Macular dystrophy
  • Increased circulating gonadotropin level


SOURCES: OMIM MENDELIAN

More info about PREMATURE OVARIAN FAILURE 12; POF12

Low match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10; MDDGA10


Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. The brain shows cobblestone lissencephaly, a cortical malformation. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as 'dystroglycanopathies' (summary by Vuillaumier-Barrot et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10; MDDGA10 Is also known as walker-warburg syndrome or muscle-eye-brain disease, tmem5-related

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Cataract
  • Macrocephaly
  • Ventriculomegaly


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10; MDDGA10

Low match HYPOSMIA-NASAL AND OCULAR HYPOPLASIA-HYPOGONADOTROPIC HYPOGONADISM SYNDROME


This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism.

HYPOSMIA-NASAL AND OCULAR HYPOPLASIA-HYPOGONADOTROPIC HYPOGONADISM SYNDROME Is also known as bosma arhinia-microphthalmia syndrome|bosma-henkin-christiansen syndrome

Related symptoms:

  • Cleft palate
  • Cataract
  • Cryptorchidism
  • Blindness
  • Microphthalmia


SOURCES: ORPHANET MENDELIAN

More info about HYPOSMIA-NASAL AND OCULAR HYPOPLASIA-HYPOGONADOTROPIC HYPOGONADISM SYNDROME

Low match HYDROLETHALUS


Hydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities.

Related symptoms:

  • Micrognathia
  • Cleft palate
  • Cryptorchidism
  • Low-set ears
  • Hydrocephalus


SOURCES: ORPHANET MENDELIAN

More info about HYDROLETHALUS

Low match SECKEL SYNDROME 2; SCKL2


Seckel syndrome is a rare autosomal recessive disorder characterized by growth retardation, microcephaly with mental retardation, and a characteristic facial appearance (Borglum et al., 2001).For a general phenotypic description and a discussion of genetic heterogeneity of Seckel syndrome, see SCKL1 (OMIM ).

SECKEL SYNDROME 2; SCKL2 Is also known as microcephalic primordial dwarfism 2|seckel-type dwarfism 2

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 2; SCKL2

Top 5 symptoms//phenotypes associated to Microphthalmia and Abnormality of the genital system

Symptoms // Phenotype % cases
Coloboma Uncommon - Between 30% and 50% cases
Cataract Uncommon - Between 30% and 50% cases
Cryptorchidism Uncommon - Between 30% and 50% cases
Intellectual disability Rare - less than 30% cases
Micrognathia Rare - less than 30% cases
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Other less frequent symptoms

Patients with Microphthalmia and Abnormality of the genital system. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases


Submucous cleft hard palate Bifid uvula Cleft palate Hydrocephalus Microcephaly Anophthalmia Congenital cataract Retinal detachment Low-set, posteriorly rotated ears Arrhinencephaly Abnormality of the respiratory system Anencephaly Absent septum pellucidum Laryngomalacia Postaxial hand polydactyly Premature birth Micromelia Deeply set eye Abnormality of the sense of smell Retrognathia Polyhydramnios Agenesis of corpus callosum Abnormality of cardiovascular system morphology Low-set ears Strabismus Hypoplasia of the olfactory bulb Abnormality of the midface Unilateral cleft lip Abnormality of the fallopian tube Single naris Prominent nose Mild global developmental delay Microglossia High pitched voice Ectopic kidney Heart murmur Cafe-au-lait spot Narrow forehead Microdontia Small for gestational age Tracheal atresia Cerebellar hypoplasia Clinodactyly of the 5th finger Hypospadias Motor delay Growth delay Short stature Global developmental delay Gingival cleft Absent nares Failure of eruption of permanent teeth Microcornea Muscular dystrophy Occipital encephalocele Large for gestational age Congenital muscular dystrophy Lissencephaly Pachygyria Encephalocele Broad-based gait Intellectual disability, profound Postaxial polydactyly Facial cleft Ventriculomegaly Macrocephaly Absent testis Increased circulating gonadotropin level Macular dystrophy Primary amenorrhea Amenorrhea Lens luxation Gonadal dysgenesis Atrophy/Degeneration affecting the brainstem Abdominal wall muscle weakness Hypoplasia of penis Hyposmia Misalignment of teeth Glaucoma External genital hypoplasia Abnormality of retinal pigmentation Anosmia Gynecomastia Amblyopia High hypermetropia Retinal dysplasia Iris coloboma Hypogonadism Inguinal hernia Visual loss Blindness Abnormal choroid morphology Type II lissencephaly Cerebellar dysplasia Few cafe-au-lait spots



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