Microphthalmia, and Retrognathia

Diseases related with Microphthalmia and Retrognathia

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

Top matches:

Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome is a syndromic developmental defect of the eye characterized by dislocated or subluxated crystalline lenses, anterior segment abnormalities, and distinctive facial features such as flat cheeks and a prominent, beaked nose. Affected individuals may develop nontraumatic conjunctival cysts, also referred to as filtering blebs.

FACIAL DYSMORPHISM-LENS DISLOCATION-ANTERIOR SEGMENT ABNORMALITIES-SPONTANEOUS FILTERING BLEBS SYNDROME Is also known as fdlab syndrome|ectopia lentis, spontaneous filtering blebs, and craniofacial dysmorphism|traboulsi syndrome|facial dysmorphism-lens dislocation-anterior segment abnormalities-nontraumatic conjunctive cysts syndrome

Related symptoms:

  • Abnormal facial shape
  • Downslanted palpebral fissures
  • Microphthalmia
  • Visual loss
  • Retrognathia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about FACIAL DYSMORPHISM-LENS DISLOCATION-ANTERIOR SEGMENT ABNORMALITIES-SPONTANEOUS FILTERING BLEBS SYNDROME

Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Nystagmus
  • Abnormal facial shape
  • Visual impairment


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3; MCCRP3

High 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

Other less relevant matches:

MICROPHTHALMIA, SYNDROMIC 12; MCOPS12 Is also known as microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MICROPHTHALMIA, SYNDROMIC 12; MCOPS12

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about BARAITSER-WINTER SYNDROME 2; BRWS2

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), 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. It 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 Roscioli 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, 7; MDDGA7 Is also known as walker-warburg syndrome or muscle-eye-brain disease, ispd-related

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Cataract
  • Low-set ears
  • Macrocephaly


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7; MDDGA7

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

Acroosteolysis-keloid-like lesions-premature aging syndrome is a rare, genetic, progeroid syndrome disorder characterized by a prematurely aged appearance (including lipoatrophy, thin, translucent skin, sparse, thin hair, and skeletal muscle atrophy), delayed tooth eruption, keloid-like lesions on pressure regions, and skeletal abnormalities including marked acroosteolysis, brachydactyly with small hands and feet, kyphoscoliosis, osteopenia, and progressive joint contractures in the fingers and toes. Craniofacial features include a thin calvarium, delayed closure of the anterior fontanel, flat occiput, shallow orbits, malar hypoplasia and narrow nose.

ACROOSTEOLYSIS-KELOID-LIKE LESIONS-PREMATURE AGING SYNDROME Is also known as premature aging syndrome, penttinen type

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about ACROOSTEOLYSIS-KELOID-LIKE LESIONS-PREMATURE AGING SYNDROME

Related symptoms:

  • Hypertelorism
  • Cleft palate
  • Cryptorchidism
  • Respiratory insufficiency
  • Microphthalmia


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY; SRTD13

MICROPHTHALMIA WITH LIMB ANOMALIES; MLA Is also known as waardenburg anophthalmia syndrome|anophthalmia-syndactyly|ophthalmoacromelic syndrome|oas

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Cleft palate
  • Low-set ears
  • High palate


SOURCES: OMIM MENDELIAN

More info about MICROPHTHALMIA WITH LIMB ANOMALIES; MLA

Top 5 symptoms//phenotypes associated to Microphthalmia and Retrognathia

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Cleft palate Uncommon - Between 30% and 50% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
Wide nose Uncommon - Between 30% and 50% cases
Macrotia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Sparse hair Agenesis of corpus callosum Hypertelorism Hydrocephalus Low-set ears Cryptorchidism Micrognathia Anophthalmia Cleft lip Downslanted palpebral fissures Respiratory insufficiency Microcephaly Global developmental delay

Rare Symptoms - Less than 30% cases

Cataract Encephalocele Growth delay Depressed nasal bridge Ventricular septal defect Pulmonary hypoplasia Short palpebral fissure Short stature Partial agenesis of the corpus callosum Cerebellar hypoplasia Dandy-Walker malformation Polydactyly Midface retrusion Sensorineural hearing impairment Ventriculomegaly Short nose Pachygyria Heterotopia Frontal bossing Lissencephaly Hearing impairment Deeply set eye Hypoplasia of the corpus callosum Postaxial hand polydactyly Prominent nose Nystagmus Retinal detachment Optic nerve hypoplasia Flared nostrils Pterygium Flat occiput Delayed cranial suture closure Long nose Hand oligodactyly Lipoatrophy Slender long bone Abnormal renal morphology Prematurely aged appearance Shallow orbits Striae distensae Narrow nose Cachexia Osteolytic defects of the phalanges of the hand Short femur Increased thyroid-stimulating hormone level Narrow philtrum Postaxial foot polydactyly Thin calvarium Patent ductus arteriosus Dermal atrophy Cleft upper lip Growth abnormality Scarring Flexion contracture Brachydactyly Edema Camptodactyly of 2nd-5th fingers Delayed skeletal maturation Alopecia Osteoporosis Hyperkeratosis Proptosis Kyphoscoliosis Osteopenia Prominent nasal bridge Respiratory failure Hypermetropia Thin vermilion border Delayed eruption of teeth Recurrent fractures Hypoplasia of the maxilla Metacarpal synostosis Foot oligodactyly Abnormality of the skin Hypotelorism Fine hair Thin skin Wormian bones Fibular hypoplasia Coarse facial features Oligodactyly Abnormality of the cardiovascular system Bell-shaped thorax Flat acetabular roof Abnormality of the hair Thoracic dysplasia Abnormal vertebral morphology Hypoplastic pelvis Bifid tongue Cleft soft palate Horizontal ribs Split hand Lobulated tongue Squared iliac bones Natal tooth Hypoplastic facial bones Unicoronal synostosis Single transverse palmar crease High palate Talipes equinovarus Syndactyly Posteriorly rotated ears Prominent forehead Postnatal growth retardation Blepharophimosis Hip dislocation Occipital encephalocele Molar tooth sign on MRI Skeletal dysplasia Bowing of the long bones Toe syndactyly Narrow chest Anal atresia Postaxial polydactyly Renal cyst Limb undergrowth Ambiguous genitalia Renal hypoplasia Cerebellar vermis hypoplasia Tibial bowing Omphalocele Renal dysplasia Thoracic hypoplasia Rhizomelia Short ribs Deep philtrum Spontaneous abortion Sandal gap Hemivertebrae Tiger tail banding Horseshoe kidney Microretrognathia Relative macrocephaly Preaxial polydactyly Scoliosis Ataxia Concave nail Broad nasal tip Tracheal atresia Gingival cleft Spasticity Feeding difficulties Delayed speech and language development Wide nasal bridge Dystonia Hernia Brachycephaly Muscular hypotonia of the trunk Severe global developmental delay Chorea Abnormality of the sense of smell Congenital diaphragmatic hernia Tetraparesis Short chin Spastic tetraparesis Bicornuate uterus Hypoplastic left atrium Seizures Ptosis Short neck Long philtrum Abnormal heart morphology Abnormality of the fallopian tube Unilateral cleft lip Telecanthus Congenital microcephaly Visual loss Dental malocclusion Convex nasal ridge Ectopia lentis Iris atrophy Large beaked nose Posterior synechiae of the anterior chamber Visual impairment Reduced visual acuity Abnormality of the nervous system Chorioretinal atrophy Chorioretinal dysplasia Arrhinencephaly Abnormality of cardiovascular system morphology Polyhydramnios Low-set, posteriorly rotated ears Micromelia Bifid uvula Premature birth Laryngomalacia Absent septum pellucidum Submucous cleft hard palate Anencephaly Abnormality of the respiratory system Thin upper lip vermilion Abnormality of the pinna Trichorrhexis nodosa Ichthyosis Corpus callosum atrophy Peters anomaly Type II lissencephaly Agyria Remnants of the hyaloid vascular system Cognitive impairment Epicanthus Optic atrophy Anteverted nares Hypogonadism Cerebral cortical atrophy Microcornea Gonadal dysgenesis Small nail Hypergonadotropic hypogonadism Sparse eyelashes Severe muscular hypotonia Macular degeneration Brittle hair Decreased fertility Keratoconjunctivitis sicca Woolly hair Corneal neovascularization Hypoplasia of teeth Retinal dysplasia Weak cry Joint stiffness Macrocephaly Wide mouth Coloboma Arthrogryposis multiplex congenita Oral cleft Highly arched eyebrow Webbed neck Postnatal microcephaly Pointed chin Trigonocephaly Long palpebral fissure Retinal coloboma Areflexia Hypoplasia of the brainstem Elevated serum creatine phosphokinase Glaucoma Facial palsy Microtia Muscular dystrophy Polymicrogyria Decreased fetal movement Intellectual disability, profound Large fontanelles Adducted thumb Congenital muscular dystrophy Fused fourth and fifth metacarpals


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