Micrognathia, and Polydactyly

Diseases related with Micrognathia and Polydactyly

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


Top matches:

Low match HYDROLETHALUS SYNDROME 2; HLS2


Hydrolethalus syndrome is an autosomal recessive embryonic lethal disorder characterized by hydrocephaly or anencephaly, postaxial polydactyly of the upper limbs, and pre- or postaxial polydactyly of the lower limbs. Duplication of the hallux is a common finding. HLS2 is considered a ciliopathy (summary by Putoux et al., 2011).Acrocallosal syndrome (ACLS ) is an allelic disorder with a less severe phenotype.For a discussion of genetic heterogeneity of hydrolethalus syndrome, see {236680}.

Related symptoms:

  • Micrognathia
  • Cleft palate
  • Ventriculomegaly
  • Hydrocephalus
  • Agenesis of corpus callosum


SOURCES: OMIM MENDELIAN

More info about HYDROLETHALUS SYNDROME 2; HLS2

Low match JOUBERT SYNDROME 18; JBTS18


Related symptoms:

  • Intellectual disability
  • Growth delay
  • Micrognathia
  • Intrauterine growth retardation
  • Ventricular septal defect


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 18; JBTS18

Low match MECKEL SYNDROME 13; MKS13


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Micrognathia
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about MECKEL SYNDROME 13; MKS13

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Other less relevant matches:

Low match OROFACIODIGITAL SYNDROME TYPE 14


Orofaciodigital syndrome type 14 is a rare subtype of orofaciodigital syndrome, with autosomal recessive inheritance and C2CD3 mutations, characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux). Corpus callosum agenesis and vermis hypoplasia with molar tooth sign, on brain imaging, are also associated.

OROFACIODIGITAL SYNDROME TYPE 14 Is also known as oral-facial-digital syndrome type 14|ofd14|microcephaly-cerebral malformation-orofaciodigital syndrome

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Abnormal facial shape
  • Cleft palate
  • Hypoplasia of the corpus callosum


SOURCES: OMIM ORPHANET MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 14

Low match MULTINUCLEATED NEURONS-ANHYDRAMNIOS-RENAL DYSPLASIA-CEREBELLAR HYPOPLASIA-HYDRANENCEPHALY SYNDROME


MARCH is an autosomal recessive lethal congenital disorder characterized by severe hydranencephaly with almost complete absence of the cerebral hemispheres, which are replaced by fluid, relative preservation of the posterior fossa structures, and renal dysplasia or agenesis. Affected fetuses either die in utero or shortly after birth, and show arthrogryposis and features consistent with anhydramnios. Histologic examination of residual brain tissue shows multinucleated neurons resulting from impaired cytokinesis (summary by Frosk et al., 2017).

MULTINUCLEATED NEURONS-ANHYDRAMNIOS-RENAL DYSPLASIA-CEREBELLAR HYPOPLASIA-HYDRANENCEPHALY SYNDROME Is also known as hydranencephaly with renal aplasia-dysplasia|march syndrome

Related symptoms:

  • Flexion contracture
  • Talipes equinovarus
  • Syndactyly
  • Clinodactyly
  • Clinodactyly of the 5th finger


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about MULTINUCLEATED NEURONS-ANHYDRAMNIOS-RENAL DYSPLASIA-CEREBELLAR HYPOPLASIA-HYDRANENCEPHALY SYNDROME

Low 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

Low match ACHONDROGENESIS TYPE 2


Achondrogenesis type 2 (ACG2), a form of achondrogenesis (see this term), is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders (see this term), characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage.

ACHONDROGENESIS TYPE 2 Is also known as achondrogenesis, langer-saldino type

Related symptoms:

  • Micrognathia
  • Macrocephaly
  • Frontal bossing
  • Anteverted nares
  • Short neck


SOURCES: ORPHANET MENDELIAN

More info about ACHONDROGENESIS TYPE 2

Low match ENDOCRINE-CEREBRO-OSTEODYSPLASIA SYNDROME


Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality.

ENDOCRINE-CEREBRO-OSTEODYSPLASIA SYNDROME Is also known as eco syndrome

Related symptoms:

  • Micrognathia
  • Abnormal facial shape
  • Cleft palate
  • Cryptorchidism
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ENDOCRINE-CEREBRO-OSTEODYSPLASIA SYNDROME

Low match HYPOTHALAMIC HAMARTOMAS


Related symptoms:

  • Neoplasm
  • Micrognathia
  • Cleft palate
  • Depressed nasal bridge
  • Macrocephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOTHALAMIC HAMARTOMAS

Low match CRANIOECTODERMAL DYSPLASIA 3; CED3


Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described (summary by Arts et al., 2011).For discussion of genetic heterogeneity of cranioectodermal dysplasia, see CED1 (OMIM ).

Related symptoms:

  • Short stature
  • Micrognathia
  • Brachydactyly
  • Macrocephaly
  • Frontal bossing


SOURCES: OMIM MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA 3; CED3

Top 5 symptoms//phenotypes associated to Micrognathia and Polydactyly

Symptoms // Phenotype % cases
Cleft palate Uncommon - Between 30% and 50% cases
Hydrocephalus Uncommon - Between 30% and 50% cases
Micromelia Uncommon - Between 30% and 50% cases
Postaxial polydactyly Uncommon - Between 30% and 50% cases
Molar tooth sign on MRI Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Micrognathia and Polydactyly. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Postaxial hand polydactyly Abnormality of cardiovascular system morphology Macrocephaly Agenesis of corpus callosum Micropenis Syndactyly Intellectual disability

Rare Symptoms - Less than 30% cases


Hamartoma Cryptorchidism Telecanthus Toe syndactyly Polyhydramnios Abnormal facial shape Sandal gap Cystic hygroma Occipital encephalocele Pulmonary hypoplasia Low-set ears Microretrognathia Retinopathy Deeply set eye Joint laxity Ventriculomegaly Anencephaly Narrow chest Renal dysplasia Intellectual disability, severe Cerebellar hypoplasia Short nose Brachydactyly Frontal bossing Abnormality of the skeletal system Flexion contracture Barrel-shaped chest Scrotal hypoplasia Shield chest Depressed nasal tip Ulnar deviation of the hand Aplasia/Hypoplasia of the corpus callosum Adrenal hypoplasia Abnormality of the pinna Holoprosencephaly Ambiguous genitalia Wide intermamillary distance Oral cleft Cleft upper lip Cleft lip Hypospadias Midface retrusion Malar flattening Wide nasal bridge Abnormal enchondral ossification Femoral hernia Lethal skeletal dysplasia Aplasia/Hypoplasia of the lungs Microphallus Anterior hypopituitarism Ulnar deviation of the hand or of fingers of the hand Chronic kidney disease Limb undergrowth Fine hair Cholestasis Rhizomelia Hepatic fibrosis Cutis laxa Widely spaced teeth Nephronophthisis Everted lower lip vermilion Scaphocephaly Hypoplasia of teeth Sagittal craniosynostosis Peripheral pulmonary artery stenosis Short nail Bilateral postaxial polydactyly Broad nail Ectodermal dysplasia Cirrhosis Neoplasm Thoracic hypoplasia Depressed nasal bridge Abnormal heart morphology Skeletal dysplasia Hip dislocation Short ribs Median cleft lip Microglossia Glioma Stage 5 chronic kidney disease Hypothalamic hamartoma Short stature Renal insufficiency Rod-cone dystrophy Craniosynostosis Sparse hair Pulmonic stenosis Dry skin Thickened nuchal skin fold Abnormality of the respiratory system Disproportionate short-limb short stature Hypoplasia of the corpus callosum Single transverse palmar crease Talipes Arthrogryposis multiplex congenita Clinodactyly of the 5th finger Clinodactyly Talipes equinovarus Aplasia of the epiglottis Hamartoma of tongue Lobulated tongue Bifid tongue Increased number of teeth Trigonocephaly Upslanted palpebral fissure Absent speech Microcephaly Renal agenesis Abnormality of the eye Preaxial polydactyly Growth delay Intrauterine growth retardation Ventricular septal defect Kyphoscoliosis Camptodactyly Abnormality of eye movement Polycystic kidney dysplasia Horseshoe kidney Global developmental delay Ataxia Apraxia Encephalocele Oculomotor apraxia Renal cyst Oligohydramnios Hydrops fetalis Anophthalmia Abdominal distention Flat face Umbilical hernia Long philtrum Short neck Anteverted nares Gingival cleft Tracheal atresia Abnormality of the fallopian tube Abnormality of the sense of smell Unilateral cleft lip Arrhinencephaly Submucous cleft hard palate Absent septum pellucidum Laryngomalacia Renal hypoplasia Narrow nasal ridge Finger clinodactyly Hypoplasia of the brainstem 2-3 toe syndactyly Broad palm Redundant neck skin Hydranencephaly Limb joint contracture Premature birth Potter facies Ureteral agenesis Microphthalmia Retrognathia Low-set, posteriorly rotated ears Bifid uvula 3-4 toe syndactyly



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