Cleft palate, and Talipes equinovarus

Diseases related with Cleft palate and Talipes equinovarus

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


Top matches:

Medium match ISOLATED ANENCEPHALY/EXENCEPHALY


Anencephaly is a neural tube defect. This malformation is characterized by the total or partial absence of the cranial vault and the covering skin, the brain being missing or reduced to a small mass. Most cases are stillborn, although some infants have been reported to survive for a few hours or even a few days.

Related symptoms:

  • Hypertelorism
  • Cleft palate
  • Talipes equinovarus
  • Hydrocephalus
  • Abnormality of cardiovascular system morphology


SOURCES: ORPHANET OMIM MENDELIAN

More info about ISOLATED ANENCEPHALY/EXENCEPHALY

Medium match MECKEL SYNDROME, TYPE 6; MKS6


Related symptoms:

  • Cleft palate
  • Talipes equinovarus
  • Hydrocephalus
  • Polydactyly
  • Cleft lip


SOURCES: OMIM MESH MENDELIAN

More info about MECKEL SYNDROME, TYPE 6; MKS6

Medium match CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF


Clubfoot is a congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities (Cardy et al., 2007). Clubfoot may occur in isolation or as part of a syndrome (e.g., diastrophic dysplasia, {222600}). Clubfoot has been reported with deficiency of long bones and mirror-image polydactyly (Gurnett et al., 2008; Klopocki et al., 2012).

Related symptoms:

  • Hypertelorism
  • Cleft palate
  • Low-set ears
  • Depressed nasal bridge
  • Downslanted palpebral fissures


SOURCES: OMIM MENDELIAN

More info about CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF

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Other less relevant matches:

Medium match SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA


Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies.

SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA Is also known as congenital spondyloepiphyseal dysplasia|spranger-wiedemann disease|sedc

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA

Medium match POPLITEAL PTERYGIUM SYNDROME; PPS


POPLITEAL PTERYGIUM SYNDROME; PPS Is also known as cleft lip/palate, paramedian mucous cysts of the lower lip, popliteal pterygium, digital and genital anomalies|faciogenitopopliteal syndrome

Related symptoms:

  • Cleft palate
  • Cryptorchidism
  • Flexion contracture
  • Abnormality of the skeletal system
  • Talipes equinovarus


SOURCES: OMIM MENDELIAN

More info about POPLITEAL PTERYGIUM SYNDROME; PPS

Medium 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

Medium match EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2; EDSSPD2


The features of Ehlers-Danlos syndrome spondylodysplastic type 2 include an aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin (Okajima et al., 1999).For a discussion of genetic heterogeneity of the spondylodysplastic type of Ehlers-Danlos syndrome, see {130070}.

EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2; EDSSPD2 Is also known as ehlers-danlos syndrome, progeroid type, 2, formerly|edsp2, formerly

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Cleft palate
  • Talipes equinovarus


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2; EDSSPD2

Medium 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

Medium match ATELOSTEOGENESIS TYPE III


Atelosteogenesis III (AOIII) is a skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.

ATELOSTEOGENESIS TYPE III Is also known as aoiii|ao3|atelosteogenesis type 3

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Cleft palate
  • Depressed nasal bridge
  • Frontal bossing


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ATELOSTEOGENESIS TYPE III

Medium match SECOND BRANCHIAL CLEFT ANOMALY


Agnathia-otocephaly is a rare condition characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary, and cardiovascular anomalies, and situs inversus have been reported. The disorder is almost always lethal (review by Faye-Petersen et al., 2006).

SECOND BRANCHIAL CLEFT ANOMALY Is also known as dysgnathia complex agnathia-holoprosencephaly|otocephaly|second branchial cleft cyst|holoprosencephaly-agnathia|second branchial cleft fistula

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Abnormal facial shape
  • Cleft palate
  • Low-set ears


SOURCES: ORPHANET OMIM MENDELIAN

More info about SECOND BRANCHIAL CLEFT ANOMALY

Top 5 symptoms//phenotypes associated to Cleft palate and Talipes equinovarus

Symptoms // Phenotype % cases
Low-set ears Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Cleft upper lip Uncommon - Between 30% and 50% cases
Cleft lip Uncommon - Between 30% and 50% cases
Postaxial hand polydactyly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Polydactyly Micrognathia Short neck

Rare Symptoms - Less than 30% cases


Short stature Downslanted palpebral fissures Pterygium Cataract Hearing impairment Scoliosis Global developmental delay Skeletal dysplasia Broad forehead Platyspondyly Narrow chest Flat face Hypoplasia of the maxilla Occipital encephalocele Depressed nasal bridge Encephalocele Microcephaly Hydrocephalus Holoprosencephaly Anencephaly Microphthalmia Flexion contracture Pulmonary hypoplasia Advanced ossification of carpal bones Proptosis Sparse hair Rocker bottom foot Osteopenia Frontal bossing Kyphoscoliosis Prominent forehead Hip dislocation Malar flattening Pectus excavatum Midface retrusion Severe short stature Flared metaphysis Rhizomelia Cutaneous photosensitivity Decreased fetal movement Sandal gap Cutis laxa Hyperextensible skin Craniofacial disproportion Growth delay Long upper lip Intrauterine growth retardation Ventriculomegaly Edema Blue sclerae Cerebellar hypoplasia Arthrogryposis multiplex congenita Congenital cataract Brain atrophy Epiphyseal dysplasia Carpal synostosis Decreased body weight Hitchhiker thumb Disproportionate short-limb short stature Tracheomalacia Anal atresia Intestinal malrotation Hypotelorism Situs inversus totalis Abnormality of the outer ear Atresia of the external auditory canal Transposition of the great arteries Microglossia Conductive hearing impairment Stenosis of the external auditory canal Hyperplasia of the maxilla Mandibular aplasia Hypoplasia of the epiglottis Laryngeal hypoplasia Alobar holoprosencephaly Proboscis Aglossia Abnormality of the eye Retrognathia Elbow dislocation Cervical segmentation defect Prominent occiput Tibial bowing Radial bowing Flat acetabular roof Knee dislocation Cervical kyphosis Horizontal sacrum Widened distal phalanges Polyhydramnios Tombstone-shaped proximal phalanges Abnormal facial shape Respiratory distress Atrial septal defect Abnormal heart morphology Agenesis of corpus callosum Posteriorly rotated ears Narrow mouth Generalized hypotonia Pyramidal skinfold extending from the base to the top of the nails Equinovarus deformity Patellar hypoplasia Pes planus Talipes Hip dysplasia Cardiomegaly Preaxial polydactyly Bilateral talipes equinovarus Foot polydactyly Median cleft palate Cystic liver disease Nystagmus Myopia Kyphosis Glaucoma Hyperlordosis Micromelia Retinal detachment Hypoplasia of the corpus callosum Abnormal internal genitalia Osteoarthritis Primary adrenal insufficiency Abnormality of cardiovascular system morphology Hernia Congenital diaphragmatic hernia Omphalocele Spina bifida Aplasia/Hypoplasia of the cerebellum Abnormality of neuronal migration Abnormal lung lobation Bile duct proliferation Calvarial skull defect Abnormality of the diaphragm Neural tube defect Oral cleft Renal cyst Hepatic fibrosis Hand polydactyly Limitation of joint mobility Abnormality of epiphysis morphology Hyperechogenic kidneys Abnormality of the kidney Hypoplasia of the vagina Abnormality of the scrotum Lower lip pit Fibrous syngnathia Absent scrotum Intercrural pterygium Short nose Abnormality of the pinna Ankyloblepharon Abdominal distention Depressed nasal ridge Renal dysplasia Polycystic kidney dysplasia Anophthalmia Pericardial effusion Enlarged kidney Popliteal pterygium Labial hypoplasia Coxa vara Overgrowth Short thorax Cryptorchidism Abnormality of the skeletal system Syndactyly Dementia Toe syndactyly Bifid uvula Abnormality of the genital system Hypoplastic labia majora Spina bifida occulta Scrotal hypoplasia Bifid scrotum Hypoplasia of the uterus Cutaneous finger syndactyly Bilateral cleft lip Bilateral cleft lip and palate Synotia



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