Cataract, and Micropenis

Diseases related with Cataract and Micropenis

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


Top matches:

Medium match MORM SYNDROME


MORM syndrome is characterised by the association of intellectual deficit, truncal obesity, retinal dystrophy and micropenis. It has been described in 14 individuals from a consanguineous family. It is transmitted in an autosomal recessive manner. The causative locus has been mapped to chromosome region 9q34.

MORM SYNDROME Is also known as morm syndrome|mental retardation-truncal obesity-retinal dystrophy-micropenis syndrome|intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Abnormal facial shape
  • Cataract
  • Delayed speech and language development


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MORM SYNDROME

Medium 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

Medium match WARBURG MICRO SYNDROME 2; WARBM2


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

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Other less relevant matches:

Medium match DEAFNESS-INTELLECTUAL DISABILITY SYNDROME, MARTIN-PROBST TYPE


Deafness-intellectual disability syndrome, Martin-Probst type is characterised by severe bilateral deafness, intellectual deficit, umbilical hernia and abnormal dermatoglyphics. It has been described in three males from three generations of one family. Mild facial dysmorphism (telangiectasias, hypertelorism, dental anomalies and a wide nasal root) was also present. Short stature, pancytopaenia, microcephaly, and renal and genitourinary anomalies were present in some of the patients. The mode of transmission is X-linked recessive and the causative gene has been localised to the q1-21 region of the X chromosome.

DEAFNESS-INTELLECTUAL DISABILITY SYNDROME, MARTIN-PROBST TYPE Is also known as martin-probst deafness-mental retardation syndrome|x-linked deafness-intellectual disability syndrome syndrome|martin-probst syndrome

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DEAFNESS-INTELLECTUAL DISABILITY SYNDROME, MARTIN-PROBST TYPE

Medium match ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME


Arhinia-choanal atresia-microphthalmia is a malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.

ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME Is also known as arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Cleft palate
  • Cataract
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME

Medium match WILSON-TURNER SYNDROME


Wilson-Turner syndrome (WTS) is a very rare X-linked multisystem genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature.

WILSON-TURNER SYNDROME Is also known as wts|mental retardation, x-linked, with gynecomastia and obesity|mrxs6|mental retardation, x-linked, syndromic 6|x-linked intellectual disability-gynecomastia-obesity syndrome

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about WILSON-TURNER SYNDROME

Medium match CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID; ARCL2D


Autosomal recessive cutis laxa type IID (ARCL2D) is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial features. Most patients also exhibit severe hypotonia as well as cardiovascular and neurologic involvement (summary by Van Damme et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID; ARCL2D

Medium match SYNDROMIC MICROPHTHALMIA TYPE 5


Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations.

SYNDROMIC MICROPHTHALMIA TYPE 5 Is also known as mcops5|syndromic microphthalmia/anophthalmia due to otx2 mutation

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SYNDROMIC MICROPHTHALMIA TYPE 5

Medium match ALKURAYA-KUCINSKAS SYNDROME; ALKKUCS


ALKKUCS is an autosomal recessive severe neurodevelopmental disorder characterized by arthrogryposis, brain abnormalities associated with cerebral parenchymal underdevelopment, and global developmental delay. Most affected individuals die in utero or soon after birth. Additional abnormalities may include hypotonia, dysmorphic facial features, and involvement of other organ systems, such as cardiac or renal. The few patients who survive have variable intellectual disability and may have seizures (summary by Gueneau et al., 2018).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ALKURAYA-KUCINSKAS SYNDROME; ALKKUCS

Top 5 symptoms//phenotypes associated to Cataract and Micropenis

Symptoms // Phenotype % cases
Microcephaly Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cataract and Micropenis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Seizures Scrotal hypoplasia Low-set ears Retrognathia Short stature Microphthalmia Flexion contracture Hypertelorism Abnormal facial shape Hearing impairment Generalized hypotonia Hernia Absent speech Intellectual disability, severe Cleft palate Talipes equinovarus High palate Myopia Delayed speech and language development

Rare Symptoms - Less than 30% cases


Wide nasal bridge Respiratory distress Hypoplastic labia majora Hypothyroidism Hypoplasia of the maxilla Posteriorly rotated ears Obesity Broad nasal tip Failure to thrive Visual impairment Coloboma Hypogonadotrophic hypogonadism Hypotelorism Anophthalmia Motor delay Overlapping toe Astigmatism Ventricular septal defect Hypospadias Camptodactyly Hypogonadism Hypermetropia Downslanted palpebral fissures Truncal obesity Intrauterine growth retardation Retinal dystrophy Deeply set eye Dental malocclusion Congenital cataract Convex nasal ridge Intellectual disability, moderate Strabismus Edema Brachycephaly Inguinal hernia Short nose Delayed puberty Macrotia Microcornea Polymicrogyria Ventriculomegaly Blepharophimosis Hypoplasia of the corpus callosum Wide nasal base Cutis laxa Narrow naris Cavum septum pellucidum Bundle branch block Focal impaired awareness seizure Mask-like facies Disproportionate tall stature Right bundle branch block Entropion Protruding ear Narrow palpebral fissure Cardiomyopathy Gynecomastia Prominent supraorbital ridges Emotional lability Decreased muscle mass Misalignment of teeth Malar prominence Uplifted earlobe Short ear Atrial septal defect Pointed chin Congestive heart failure Pneumonia Hypertrophic cardiomyopathy Bulbous nose Triangular face Sepsis Gliosis Focal-onset seizure Sloping forehead Nystagmus Ectopic posterior pituitary Respiratory insufficiency Lissencephaly Cerebellar hypoplasia Upslanted palpebral fissure Arthrogryposis multiplex congenita Abnormality of eye movement Abnormality of the foot Webbed neck Dandy-Walker malformation Apraxia Heterotopia Oculomotor apraxia Plagiocephaly Behavioral abnormality Cutaneous syndactyly Aplasia/Hypoplasia of the corpus callosum Adducted thumb Pleural effusion Hypoplasia of the brainstem Pericardial effusion Cystic hygroma Overlapping fingers Cerebellar dysplasia Hand clenching Clinodactyly Hydrocephalus Agenesis of corpus callosum Posterior embryotoxon Narrow mouth Photophobia Joint laxity Scarring Retinopathy Pigmentary retinopathy Microretrognathia Arnold-Chiari malformation Optic nerve hypoplasia Short middle phalanx of finger Microglossia Anteverted nares Hypoplasia of the fovea Retinal dysplasia Central hypothyroidism Decreased testicular size Mandibular aplasia Macular scar Proboscis Aglossia Myopic astigmatism Depressed nasal bridge Macrocephaly Specific learning disability Encephalocele Tapered finger Broad femoral neck Gait ataxia Autism Rhizomelia Coxa valga Accelerated skeletal maturation Metaphyseal widening 2-3 toe syndactyly Scaphocephaly Obstructive sleep apnea Sensorineural hearing impairment Undetectable visual evoked potentials Epicanthus Abnormality of the dentition Renal insufficiency Malar flattening Umbilical hernia Proteinuria Telecanthus Wide mouth Stage 5 chronic kidney disease Feeding difficulties Asymmetry of the ears Wide intermamillary distance Cutaneous photosensitivity Polydactyly Reduced visual acuity Childhood-onset truncal obesity Growth delay Kyphoscoliosis Sparse hair Camptodactyly of finger Single transverse palmar crease Interphalangeal joint contracture of finger Rocker bottom foot Global brain atrophy Large beaked nose Optic atrophy Muscular hypotonia of the trunk Postnatal growth retardation Prominent nasal bridge Severe global developmental delay Postnatal microcephaly Low anterior hairline Spastic diplegia Everted lower lip vermilion Hypoplasia of penis Short foot Absent paranasal sinuses Hyposmia Lacrimation abnormality Hypoplasia of teeth Diastema Lacrimal duct stenosis Abnormality of the sense of smell Aplasia/Hypoplasia involving the nose Frontal encephalocele Aplasia of the nose Muscular hypotonia Preauricular pit Kyphosis Pes cavus Pes planus Thin upper lip vermilion Microtia Neurological speech impairment Poor speech Thick eyebrow Small hand Agenesis of permanent teeth Limb-girdle muscular dystrophy Pancytopenia Aplasia/Hypoplasia of the nipples Renal hypoplasia Thick lower lip vermilion Renal dysplasia Telangiectasia Abnormal dermatoglyphics Bifid scrotum Congenital sensorineural hearing impairment Telangiectasia of the skin Hypoplastic nipples Chordee Reduced number of teeth Midface retrusion Cleft lip Corneal opacity Muscular dystrophy Synophrys Iris coloboma Primary amenorrhea Choanal atresia Anosmia Kinked brainstem



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Myopia and Single transverse palmar crease, related diseases and genetic alterations Tremor and Heterotopia, related diseases and genetic alterations Hydrocephalus and Glioma, related diseases and genetic alterations Edema and Hydrocephalus, related diseases and genetic alterations Cleft palate and Tall stature, related diseases and genetic alterations

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