Cleft palate, and Postaxial hand polydactyly

Diseases related with Cleft palate and Postaxial hand polydactyly

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


Top matches:

Medium match MECKEL SYNDROME, TYPE 3; MKS3


Meckel syndrome is an autosomal recessive pre- or perinatal lethal malformation syndrome characterized by renal cystic dysplasia and variably associated features including developmental anomalies of the central nervous system (typically occipital encephalocele), hepatic ductal dysplasia and cysts, and postaxial polydactyly (summary by Smith et al., 2006).For a more complete phenotypic description and information on genetic heterogeneity of Meckel syndrome, see MKS1 (OMIM ).

MECKEL SYNDROME, TYPE 3; MKS3 Is also known as meckel-gruber syndrome, type 3

Related symptoms:

  • Cleft palate
  • Hydrocephalus
  • Polydactyly
  • Postaxial polydactyly
  • Renal cyst


SOURCES: OMIM ORPHANET MENDELIAN

More info about MECKEL SYNDROME, TYPE 3; MKS3

Medium match MECKEL SYNDROME, TYPE 5; MKS5


Related symptoms:

  • Cleft palate
  • Microphthalmia
  • Polydactyly
  • Cleft lip
  • Abnormality of the kidney


SOURCES: MESH OMIM MENDELIAN

More info about MECKEL SYNDROME, TYPE 5; MKS5

Medium match MECKEL SYNDROME, TYPE 2; MKS2


Meckel syndrome is a rare autosomal recessive lethal condition characterized by an occipital meningoencephalocele, enlarged kidneys with multicystic dysplasia and fibrotic changes in the portal area of the liver and with ductal proliferation, and postaxial polydactyly. For a more complete phenotypic description and information on genetic heterogeneity, see MKS1 (OMIM ).

MECKEL SYNDROME, TYPE 2; MKS2 Is also known as meckel-gruber syndrome, type 2

Related symptoms:

  • Growth delay
  • Cleft palate
  • Intrauterine growth retardation
  • Microphthalmia
  • Polydactyly


SOURCES: OMIM MESH MENDELIAN

More info about MECKEL SYNDROME, TYPE 2; MKS2

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Other less relevant 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 POSTAXIAL POLYDACTYLY-ANTERIOR PITUITARY ANOMALIES-FACIAL DYSMORPHISM SYNDROME


Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome is a rare, genetic developmental defect during embryogenesis disorder characterized primarily by congenital hypopituitarism and/or postaxial polydactyly. It can be associated with short stature, delayed bone age, hypogonadotropic hypogonadism, and/or midline facial defects (e.g. hypotelorism, mild midface hypoplasia, flat nasal bridge, and cleft lip and/or palate). Hypoplastic anterior pituitary and ectopic posterior pituitary lobe are frequent findings on MRI examination.

POSTAXIAL POLYDACTYLY-ANTERIOR PITUITARY ANOMALIES-FACIAL DYSMORPHISM SYNDROME Is also known as pallister-hall syndrome 2, formerly|culler-jones syndrome|phs2, formerly

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about POSTAXIAL POLYDACTYLY-ANTERIOR PITUITARY ANOMALIES-FACIAL DYSMORPHISM SYNDROME

Medium match MECKEL SYNDROME, TYPE 4; MKS4


Meckel syndrome is an autosomal recessive pre- or perinatal lethal disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically occipital encephalocele), hepatic ductal dysplasia and cysts, and postaxial polydactyly (summary by Baala et al., 2007).For a more complete phenotypic description and information on genetic heterogeneity of Meckel syndrome, see MKS1 (OMIM ).

MECKEL SYNDROME, TYPE 4; MKS4 Is also known as meckel-gruber syndrome, type 4

Related symptoms:

  • Microcephaly
  • Cleft palate
  • Intrauterine growth retardation
  • Ventricular septal defect
  • Hypoplasia of the corpus callosum


SOURCES: OMIM MENDELIAN

More info about MECKEL SYNDROME, TYPE 4; MKS4

Medium match OROFACIODIGITAL SYNDROME TYPE 5


Oral-facial-digital syndrome, type 5 is characterized by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum).

OROFACIODIGITAL SYNDROME TYPE 5 Is also known as polydactyly postaxial with median cleft of upper lip|oral-facial-digital syndrome type 5|polydactyly, postaxial, with median cleft of upper lip|oral-facial-digital syndrome, type v|thurston syndrome|ofd5|orofaciodigital syndrome, thurston type|ofds v

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Hypertelorism
  • Cleft palate
  • Frontal bossing


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 5

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 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

Top 5 symptoms//phenotypes associated to Cleft palate and Postaxial hand polydactyly

Symptoms // Phenotype % cases
Polydactyly Common - Between 50% and 80% cases
Occipital encephalocele Common - Between 50% and 80% cases
Postaxial polydactyly Common - Between 50% and 80% cases
Anencephaly Common - Between 50% and 80% cases
Encephalocele Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cleft palate and Postaxial hand polydactyly. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hydrocephalus Cleft upper lip Bile duct proliferation Microphthalmia Renal cyst Cleft lip Talipes equinovarus Bowing of the long bones Dandy-Walker malformation

Rare Symptoms - Less than 30% cases


Low-set ears Bifid uvula Agenesis of corpus callosum Anophthalmia Renal dysplasia Ventricular septal defect Microcephaly Cryptorchidism Oral cleft Holoprosencephaly Depressed nasal ridge Abnormality of cardiovascular system morphology Postaxial foot polydactyly Growth delay Hypertelorism Meningocele Abnormality of the kidney Intrauterine growth retardation Hepatic fibrosis Meningoencephalocele Short neck Abdominal distention Narrow chest Broad forehead Abnormality of the pinna Short nose Median cleft lip Multicystic kidney dysplasia Lobulated tongue Horseshoe kidney Aganglionic megacolon Cystic renal dysplasia Abnormal heart morphology Frontal bossing Scoliosis Polycystic kidney dysplasia Enlarged kidney Pericardial effusion Laryngomalacia Tracheal atresia Abnormality of the fallopian tube Abnormality of the sense of smell Unilateral cleft lip Arrhinencephaly Abnormality of the respiratory system Submucous cleft hard palate Absent septum pellucidum Premature birth Agenesis of cerebellar vermis Micromelia Low-set, posteriorly rotated ears Deeply set eye Retrognathia Polyhydramnios Micrognathia Equinovarus deformity Hyperechogenic kidneys Intellectual disability Hypoplasia of the corpus callosum Molar tooth sign on MRI Neural tube defect Short stature Global developmental delay Seizures Cystic liver disease Abnormal internal genitalia Hand polydactyly Pulmonary hypoplasia Abnormality of the diaphragm Depressed nasal bridge Calvarial skull defect Abnormal lung lobation Primary adrenal insufficiency Abnormality of neuronal migration Aplasia/Hypoplasia of the cerebellum Spina bifida Omphalocele Congenital diaphragmatic hernia Pain Midface retrusion Abnormality of the urinary system Poor appetite Atrial septal defect Hernia Ectopic posterior pituitary Bilateral postaxial polydactyly Anterior pituitary hypoplasia Microphallus Adrenocorticotropic hormone deficiency Panhypopituitarism Hypopituitarism Delayed skeletal maturation High pitched voice Diabetes insipidus Bilateral cryptorchidism Hypotelorism Growth hormone deficiency Micropenis Abdominal pain Hypogonadism Gingival cleft



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