Microphthalmia, and Infertility

Diseases related with Microphthalmia and Infertility

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

Top matches:

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Nystagmus
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS; BPES

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

Trichothiodystrophy is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called 'tiger tail banding,' under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections. There are both photosensitive and nonphotosensitive forms of the disorder (summary by Faghri et al., 2008).Sabinas brittle hair syndrome (OMIM ) is another form of nonphotosensitive TTD.For a discussion of genetic heterogeneity of trichothiodystrophy, see {601675}.

TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE; TTD4 Is also known as trichothiodystrophy-neurocutaneous syndrome|pollitt syndrome|abhs|trichothiodystrophy, nonphotosensitive 1|bids syndrome|ttdn1|amish brittle hair brain syndrome|hair-brain syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE; TTD4

Other less relevant matches:

Trichothiodystrophy (TTD) is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called 'tiger tail banding,' under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections. There are both photosensitive and nonphotosensitive forms of the disorder. TTD patients have not been reported to have a predisposition to cancer (summary by Faghri et al., 2008). Genetic Heterogeneity of TrichothiodystrophyAlso see TTD2 (OMIM ), caused by mutation in the ERCC3/XPB gene (OMIM ); TTD3 (OMIM ), caused by mutation in the GTF2H5 gene (OMIM ); TTD4 (OMIM ), caused by mutation in the MPLKIP gene (OMIM ); TTD5 (OMIM ), caused by mutation in the RNF113A gene (OMIM ); and TTD6 (OMIM ), caused by mutation in the GTF2E2 gene (OMIM ).

TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE; TTD1 Is also known as ttdp|ichthyosiform erythroderma with hair abnormality and mental and growth retardation|trichothiodystrophy, photosensitive|trichothiodystrophy with congenital ichthyosis|ichthyosis, congenital, with trichothiodystrophy|pibids syndrome|tay syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE; TTD1

Medium match FANCONI ANEMIA

Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

FANCONI ANEMIA Is also known as fanconi pancytopenia|fanconi anemia|fa

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about FANCONI ANEMIA

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

Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism.

FRONTONASAL DYSPLASIA-ALOPECIA-GENITAL ANOMALIES SYNDROME Is also known as alx4-related fndag|frontonasal dysplasia type 2|frontonasal dysplasia with alopecia and genital abnomality|craniofrontonasal dysplasia with alopecia and hypogonadism

Related symptoms:

  • Hypertelorism
  • Nystagmus
  • Strabismus
  • Cryptorchidism
  • Low-set ears


SOURCES: ORPHANET MENDELIAN

More info about FRONTONASAL DYSPLASIA-ALOPECIA-GENITAL ANOMALIES SYNDROME

For a general discussion of xeroderma pigmentosum, see XPA (OMIM ), and of Cockayne syndrome, see CSA (OMIM ).Cleaver (1990) provided a review of the causes of xeroderma pigmentosum.

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B; XPB Is also known as xp, group b|xpbc

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B; XPB

Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy.

COMBINED PITUITARY HORMONE DEFICIENCIES, GENETIC FORMS Is also known as multiple pituitary hormone deficiencies, genetic forms|familial congenital hypopituitarism

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about COMBINED PITUITARY HORMONE DEFICIENCIES, GENETIC FORMS

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

Top 5 symptoms//phenotypes associated to Microphthalmia and Infertility

Symptoms // Phenotype % cases
Hypogonadism Common - Between 50% and 80% cases
Cataract Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Microphthalmia and Infertility. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Growth delay Strabismus Nystagmus Microcephaly Cryptorchidism Hearing impairment Hypertelorism Microcornea Cleft palate Small for gestational age Small nail Frontal bossing Intrauterine growth retardation Severe short stature Abnormal facial shape Ataxia Agenesis of corpus callosum Anteverted nares Epicanthus Depressed nasal bridge Edema High palate

Rare Symptoms - Less than 30% cases

Alopecia Neoplasm Tiger tail banding Delayed puberty Trichorrhexis nodosa Macular degeneration Hypoplasia of teeth Corneal neovascularization Woolly hair Keratoconjunctivitis sicca Decreased fertility Brittle hair Hypergonadotropic hypogonadism Ichthyosis Sparse hair Retrognathia Short nose Optic atrophy Cognitive impairment Midface retrusion Freckling Cutaneous photosensitivity Low-set ears Choanal atresia Oligohydramnios Inguinal hernia Iris coloboma Abnormality of the eye Anosmia Hypothyroidism Anophthalmia Upslanted palpebral fissure Hyposmia Patent ductus arteriosus Hypospadias Ventriculomegaly Fine hair Fatigue Hyperreflexia Visual impairment Encephalocele Scrotal hypoplasia Progeroid facial appearance Sensorineural hearing impairment Intellectual disability, severe Hypogonadotrophic hypogonadism Basal cell carcinoma Squamous cell carcinoma Telangiectasia Generalized hypotonia Pneumonia Prominent forehead Amenorrhea Neutropenia Basal ganglia calcification Failure to thrive Abnormality of the liver Hypermetropia Postnatal growth retardation Increased bone mineral density Synophrys Ptosis Decreased testicular size Telecanthus Delayed cranial suture closure Anemia Delayed skeletal maturation Flexion contracture Hernia Myopia Seizures Primary amenorrhea Holoprosencephaly Abnormality of the preputium Short attention span Pyridoxine-responsive sideroblastic anemia Aplasia/Hypoplasia of fingers Aplasia/Hypoplasia of the uvula Neoplasm of head and neck Deficient excision of UV-induced pyrimidine dimers in DNA Anemic pallor Blindness Bifid uvula Visual loss Lacrimal duct stenosis Hypoplasia of the olfactory bulb Abnormality of the midface Absent nares Single naris Failure of eruption of permanent teeth Abdominal wall muscle weakness Diastema Misalignment of teeth Prolonged G2 phase of cell cycle Submucous cleft hard palate External genital hypoplasia Abnormality of the sense of smell Aplasia/Hypoplasia involving the nose Gynecomastia Amblyopia Hypoplasia of penis Frontal encephalocele Chromosomal breakage induced by crosslinking agents Abnormal carotid artery morphology Abnormality of the uterus Abnormal aortic valve morphology Abnormality of the hypothalamus-pituitary axis Acute monocytic leukemia Abnormality of femur morphology Bicornuate uterus Abnormality of the thumb Abnormality of the testis Aplastic anemia Abnormal localization of kidney Abnormality of the upper limb B-cell lymphoma Arteriovenous malformation Abnormality of the ulna Abnormal eyelid morphology Chromosome breakage Hearing abnormality External ear malformation Abnormal renal morphology Abnormality of chromosome stability Almond-shaped palpebral fissure Partial duplication of thumb phalanx Compensated hypothyroidism Absent testis Hypoplastic anemia Lacrimation abnormality Aplasia of the nose Decreased fertility in males Clubbing of toes Complete duplication of thumb phalanx Reticulocytopenia Aplasia/Hypoplasia of the iris Low-grade fever Meckel diverticulum Duplicated collecting system Duodenal stenosis Primary hypothyroidism Abnormality of nervous system morphology Abnormal aortic morphology Abnormality of the dentition Limb-girdle muscular dystrophy Intellectual disability, mild Ascites Hypotension Pituitary dwarfism Abnormal prolactin level Growth hormone deficiency Macroglossia Moon facies Decreased cervical spine mobility Abnormality of secondary sexual hair Aplasia/Hypoplasia of the breasts Osteoporosis of vertebrae Anterior pituitary agenesis Pulmonic stenosis Severe global developmental delay Deeply set eye Hypoglycemia Aplasia/Hypoplasia of the radius Depressed nasal ridge Septo-optic dysplasia Osteopenia Optic nerve hypoplasia Severe postnatal growth retardation Hypopituitarism Absent septum pellucidum Prolonged neonatal jaundice Abnormality of digit Hypoplastic left heart Adrenal insufficiency Concave nasal ridge Ectopic posterior pituitary Hoarse voice Pituitary hypothyroidism Absence of secondary sex characteristics Anterior pituitary hypoplasia Median cleft lip and palate Aspiration Decreased circulating ACTH level Jaundice Polyhydramnios Hypoplastic labia majora Broad nasal tip Muscular dystrophy Agenesis of cerebellar vermis Broad philtrum Conical tooth Calvarial skull defect Coronal craniosynostosis Hypoplasia of the maxilla Dental malocclusion Corneal opacity Underdeveloped nasal alae Reduced number of teeth Aspiration pneumonia Preauricular pit Intellectual disability, moderate Agenesis of permanent teeth Brachycephaly Bifid nose Coloboma Polydactyly Squamous cell carcinoma of the skin Constipation Ectopic anterior pituitary gland Malar flattening Muscular hypotonia Increased cellular sensitivity to UV light Abnormal CNS myelination Cutaneous melanoma Decreased nerve conduction velocity Cerebellar atrophy Dermal atrophy Abnormality of the cardiovascular system Pigmentary retinopathy Retinal degeneration Micropenis Cleft lip Retinopathy Irregular hyperpigmentation Vertigo Absent radius Cerebral cortical atrophy Recurrent infections Delayed speech and language development Concave nail Partial agenesis of the corpus callosum Severe muscular hypotonia Sparse eyelashes Macrotia Ventricular septal defect Babinski sign Abnormality of the medullary cavity of the long bones Abnormal circulating follicle-stimulating hormone level Transient hypophosphatemia Retinal calcification Calvarial osteosclerosis Stenosis of the medullary cavity of the long bones Thin long bone diaphyses Areflexia Hyperkeratosis Postnatal macrocephaly Chronic diarrhea Hyperactive deep tendon reflexes Congenital ichthyosiform erythroderma Spastic diplegia Intestinal obstruction Erythroderma Abnormality of the thorax Dysphonia Abnormality of the face Photophobia Eczema Nail dysplasia Decreased antibody level in blood Asthma Dry skin Malabsorption Nail dystrophy Protruding ear Cortical thickening of long bone diaphyses Congenital hypoparathyroidism IgG deficiency Cupped ear Female infertility Unilateral ptosis Epicanthus inversus Congenital ptosis Increased circulating gonadotropin level Short finger Hypoplasia of the uterus Premature ovarian insufficiency Abnormality of the breast Narrow palpebral fissure Abnormality of the hair Congenital diaphragmatic hernia Narrow forehead Blepharophimosis Camptodactyly Wide nasal bridge Feeding difficulties Premature atrial contractions Abnormal lacrimal duct morphology Thickened cortex of long bones Hyperphosphatemia Hypocalcemic tetany Hypocalcemic seizures Persistence of primary teeth Bilateral microphthalmos Delayed closure of the anterior fontanelle Tetany Decreased skull ossification Hypoparathyroidism Macrocephaly Papilledema Proportionate short stature High hypermetropia High pitched voice Hypocalcemia High myopia Carious teeth Congenital cataract Alopecia of scalp Fragile nails Abnormality of blood and blood-forming tissues Recurrent urinary tract infections Horseshoe kidney Bone marrow hypocellularity Spina bifida Abnormal vertebral morphology Insulin resistance Short thumb Cafe-au-lait spot Aganglionic megacolon Leukopenia Abnormality of the genital system Short palpebral fissure Pancytopenia Sloping forehead Tetralogy of Fallot Renal agenesis Lymphoma Type I diabetes mellitus Azoospermia Bruising susceptibility Glucose intolerance Acute myeloid leukemia Multiple cafe-au-lait spots Myeloid leukemia Absent thumb Hydroureter Ectopic kidney Hypoplasia of the ulna Tracheoesophageal fistula Cranial nerve paralysis Triphalangeal thumb Myelodysplasia Hyperinsulinemia Abnormality of the urinary system Abnormality of vision Reduced bone mineral density Hypopigmented skin patches Renal hypoplasia/aplasia Hypopigmentation of the skin Abnormality of skin pigmentation Pili torti Abnormality of the skeletal system Abnormality of cardiovascular system morphology Headache Renal insufficiency Congestive heart failure Atrial septal defect Hydrocephalus Respiratory distress Fever Abnormal heart morphology Hepatomegaly Micrognathia Scoliosis Lack of subcutaneous fatty tissue Jerky ocular pursuit movements Abnormality of hair texture Titubation Congenital nonbullous ichthyosiform erythroderma Thrombocytopenia Clinodactyly of the 5th finger Astigmatism Leukemia Anal atresia Facial asymmetry Abnormality of the foot Toe syndactyly Dolichocephaly Hip dislocation Finger syndactyly Abnormal cardiac septum morphology Diabetes mellitus Irritability Abnormality of the kidney Hypertrophic cardiomyopathy Carcinoma Pes planus Umbilical hernia Proptosis Weight loss Absent paranasal sinuses


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