Microphthalmia, and Talipes equinovarus

Diseases related with Microphthalmia and Talipes equinovarus

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


Top matches:

High match LISSENCEPHALY 8; LIS8


Lissencephaly-8 is an autosomal recessive neurologic disorder characterized by delayed psychomotor development, intellectual disability with poor or absent speech, early-onset refractory seizures, and hypotonia. Brain imaging shows variable features, including cortical gyral abnormalities and hypoplasia of the corpus callosum, brainstem, and cerebellum (summary by Jerber et al., 2016).For a general description and a discussion of genetic heterogeneity lissencephaly, see LIS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LISSENCEPHALY 8; LIS8

High match MECKEL SYNDROME, TYPE 8; MKS8


Meckel-Gruber syndrome is a severe autosomal recessive ciliopathy classically defined by the triad of encephalocele, polydactyly, and renal and biliary ductal dysplasia. Clinical heterogeneity exists even within families (summary by Shaheen et al., 2011).For a general phenotypic description and a discussion of genetic heterogeneity of Meckel syndrome, see MKS1 (OMIM ).

Related symptoms:

  • Microcephaly
  • Cleft palate
  • Low-set ears
  • Talipes equinovarus
  • Short neck


SOURCES: OMIM MENDELIAN

More info about MECKEL SYNDROME, TYPE 8; MKS8

High match CEREBROOCULOFACIOSKELETAL SYNDROME 3; COFS3


Cerebrooculofacioskeletal syndrome is a severe, progressive neurologic disorder characterized by prenatal onset of arthrogryposis, microcephaly, and growth failure. Postnatal features include severe developmental delay, congenital cataracts (in some), and marked UV sensitivity of the skin. Survival beyond 6 years of age is rare. COFS represents the severe end of the spectrum of disorders caused by mutations in nucleotide excision repair (NER) genes, with Cockayne syndrome and xeroderma pigmentosum being milder NER-related phenotypes (summary by Drury et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of cerebrooculofacioskeletal syndrome, see COFS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MESH MENDELIAN

More info about CEREBROOCULOFACIOSKELETAL SYNDROME 3; COFS3

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Other less relevant matches:

High match MICROCEPHALY-MICROMELIA SYNDROME; MIMIS


Microcephaly-micromelia syndrome (MIMIS) is a severe autosomal recessive disorder that usually results in death in utero or in the perinatal period. Affected individuals have severe growth retardation with microcephaly and variable malformations of the limbs, particularly the upper limbs. Defects include radial ray anomalies, malformed digits, and clubfeet (summary by Evrony et al., 2017).

Related symptoms:

  • Microcephaly
  • Growth delay
  • Micrognathia
  • Cleft palate
  • Low-set ears


SOURCES: OMIM MESH MENDELIAN

More info about MICROCEPHALY-MICROMELIA SYNDROME; MIMIS

High match SHORT STATURE-AUDITORY CANAL ATRESIA-MANDIBULAR HYPOPLASIA-SKELETAL ANOMALIES SYNDROME


Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by short stature, conductive hearing loss due to bilateral auditory canal atresia, mandibular hypoplasia and multiple skeletal abnormalities, including bilateral humeral hypoplasia, humeroscapular synostosis, delayed pubis rami ossification, central dislocation of the hips, and proximal femora defects, as well as bilateral talipes equinovarus, proximally implanted thumbs and lumbar hyperlordosis. Associated craniofacial dysmorphism includes micro/scaphocephaly, malar hypoplasia, high-arched palate, and simple, dysplastic pinnae with prearicular pits/tags.

SHORT STATURE-AUDITORY CANAL ATRESIA-MANDIBULAR HYPOPLASIA-SKELETAL ANOMALIES SYNDROME Is also known as sams syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Micrognathia
  • Abnormal facial shape
  • Cryptorchidism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about SHORT STATURE-AUDITORY CANAL ATRESIA-MANDIBULAR HYPOPLASIA-SKELETAL ANOMALIES SYNDROME

High match MICROPHTHALMIA WITH LIMB ANOMALIES; MLA


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

High match LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2; LSDMCA2


LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2; LSDMCA2 Is also known as aplcc|aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2; LSDMCA2

High 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

High match HYDROLETHALUS SYNDROME 1; HLS1


Related symptoms:

  • Micrognathia
  • Cleft palate
  • Low-set ears
  • Intrauterine growth retardation
  • Macrocephaly


SOURCES: MESH OMIM MENDELIAN

More info about HYDROLETHALUS SYNDROME 1; HLS1

High match DUANE-RADIAL RAY SYNDROME; DRRS


Duane-radial ray syndrome, also known as Okihiro syndrome, is an autosomal dominant disorder characterized by upper limb anomalies, ocular anomalies, and, in some cases, renal anomalies. The combination of the 3 findings was earlier referred to as 'acro-renal-ocular syndrome.' The ocular anomalies usually include Duane anomaly (see {126800}), but this finding may be absent in some patients (Kohlhase et al., 2003). Similarly, renal anomalies are not always seen and may not have been investigated, particularly in cases reported before routine renal imaging (Aalfs et al., 1996). Other less common features include sensorineural deafness and gastrointestinal anomalies, such as imperforate anus.The Holt-Oram syndrome (OMIM ), caused by mutation in the TBX5 gene (OMIM ) on chromosome 12q24, shows similar anomalies of the upper limb, but can be differentiated from Duane-radial ray syndrome by the absence of ocular and renal anomalies and the presence of severe congenital heart defects (Kohlhase, 2003).

DUANE-RADIAL RAY SYNDROME; DRRS Is also known as dr syndrome|acrorenoocular syndrome|duane anomaly with radial ray abnormalities and deafness|okihiro syndrome

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about DUANE-RADIAL RAY SYNDROME; DRRS

Top 5 symptoms//phenotypes associated to Microphthalmia and Talipes equinovarus

Symptoms // Phenotype % cases
Cleft palate Common - Between 50% and 80% cases
Micrognathia Uncommon - Between 30% and 50% cases
Low-set ears Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
Cataract Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Growth delay Global developmental delay Polydactyly Agenesis of corpus callosum Posteriorly rotated ears Anophthalmia Short stature Postaxial hand polydactyly Downslanted palpebral fissures Cleft lip Short nose Narrow mouth Intellectual disability Encephalocele Intrauterine growth retardation Sandal gap

Rare Symptoms - Less than 30% cases


Renal agenesis Preaxial hand polydactyly Preaxial polydactyly Hydronephrosis Ventricular septal defect Talipes Short palpebral fissure Absent thumb Microcornea Oligodactyly Absent radius Coloboma Retrognathia Hearing impairment Horseshoe kidney Cryptorchidism High palate Seizures Respiratory insufficiency Myopia Hypertelorism Prominent forehead Abnormality of the skeletal system Hip dislocation Short humerus Syndactyly Abnormal facial shape Atrial septal defect Narrow chest Flexion contracture Cleft upper lip Generalized hypotonia Ventriculomegaly Short neck Abnormality of the kidney Abnormality of the pinna Hypoplasia of the corpus callosum Broad forehead Occipital encephalocele Omphalocele Anencephaly Heterotopia Dandy-Walker malformation Holoprosencephaly Spasticity Absent septum pellucidum Cerebellar hypoplasia Abnormal lung lobation Median cleft lip Broad neck Bilateral cleft lip Bilateral cleft lip and palate Tracheal stenosis Abnormal cortical gyration Preaxial foot polydactyly Complete atrioventricular canal defect Bifid nose Abnormal vagina morphology Arrhinencephaly Accessory spleen Upper limb undergrowth Postaxial polydactyly Premature birth Central hypothyroidism Astigmatism Retinal dystrophy Hypoplasia of the maxilla Pigmentary retinopathy Microretrognathia Arnold-Chiari malformation Optic nerve hypoplasia Short middle phalanx of finger Posterior embryotoxon Microglossia Hypoplasia of the fovea Retinal dysplasia Ectopic posterior pituitary Laryngeal hypoplasia Mandibular aplasia Macular scar Proboscis Aglossia Myopic astigmatism Macrocephaly Hydrocephalus Hypospadias Polyhydramnios Optic atrophy Oral cleft Pulmonary hypoplasia Severe hydrocephalus Adrenal gland dysgenesis Duplication of phalanx of hallux Optic disc hypoplasia Triphalangeal thumb Hypoplasia of the ulna Ectopic kidney Anal stenosis Choanal stenosis Retinal coloboma Fused cervical vertebrae Bladder diverticulum Abnormality of the nasopharynx Small thenar eminence Duane anomaly Crossed fused renal ectopia Hypoplasia of the radius Hemifacial hypoplasia Renal malrotation Aplasia of metacarpal bones Radial deviation of the hand Unilateral deafness Impaired ocular adduction Impaired ocular abduction Impaired convergence Palpebral fissure narrowing on adduction Pectoralis hypoplasia Slit-like opening of the exterior auditory meatus Abnormality of the urinary system Abnormal dermatoglyphics Bifid uterus Diabetes mellitus Agenesis of the diaphragm Myopathy Cleft in skull base Proximal tibial hypoplasia Scoliosis Strabismus Sensorineural hearing impairment Ptosis Epicanthus Dilatation Abnormal heart morphology Pes planus Spina bifida occulta Facial palsy Facial asymmetry Anal atresia Iris coloboma Vesicoureteral reflux Intestinal malrotation Bilateral sensorineural hearing impairment Renal hypoplasia Choanal atresia Aganglionic megacolon Short thumb Retinopathy Micropenis Scarring Atresia of the external auditory canal Depressed nasal ridge Abdominal distention Feeding difficulties Anteverted nares Malar flattening Deeply set eye Conductive hearing impairment Type II lissencephaly Hypotelorism Rhizomelia Abnormality of the genitourinary system Proximal placement of thumb Forearm undergrowth Preauricular pit Dislocated radial head Abnormal myelination Scaphocephaly Hypoplastic scapulae Hypoplastic ilia Delayed ossification of pubic rami Scapulohumeral synostosis Depressed nasal bridge Frontal bossing Delayed ability to walk Aplasia of the ulna Humeroradial synostosis Postnatal growth retardation Micromelia Congenital cataract Brain atrophy Decreased fetal movement Cutaneous photosensitivity Rocker bottom foot Edema Respiratory failure Equinovarus deformity Craniosynostosis Small for gestational age Hyperechogenic kidneys Wide nose Short tibia Convex nasal ridge Limb undergrowth Oligohydramnios Enlarged kidney Aplasia/Hypoplasia of the corpus callosum Abnormality of the hand Cortical gyral simplification Pericardial effusion Cystic hygroma Polycystic kidney dysplasia Renal dysplasia Hypoplasia of the brainstem Blepharophimosis Joint laxity Ventricular hypertrophy Upslanted palpebral fissure Hyperactivity High forehead Telecanthus Highly arched eyebrow Delayed myelination Wide intermamillary distance Absent speech Tetralogy of Fallot Optic disc pallor Congenital diaphragmatic hernia Pulmonary arterial hypertension Hernia Spontaneous abortion Short chin Erythroderma Aplasia cutis congenita Ureteral duplication Nystagmus Respiratory distress Intellectual disability, severe Arthrogryposis multiplex congenita Hypothyroidism Photophobia Clinodactyly Long philtrum Toe syndactyly Postaxial foot polydactyly Single transverse palmar crease Abnormality of the cardiovascular system Split hand Abnormal vertebral morphology Abnormality of the hair Lissencephaly Hemivertebrae Generalized myoclonic seizures Deep philtrum Tibial bowing Fibular hypoplasia Short femur Elevated serum creatine phosphokinase Abnormal renal morphology Hand oligodactyly Flared nostrils Foot oligodactyly Metacarpal synostosis Camptodactyly of 2nd-5th fingers Fused fourth and fifth metacarpals Polymicrogyria Visual impairment Hypertension Muscular hypotonia of the trunk Upper limb muscle hypoplasia



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