Micrognathia, and Hydrocephalus

Diseases related with Micrognathia and Hydrocephalus

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

Top matches:

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

Fraser syndrome is an autosomal recessive malformation disorder characterized by cryptophthalmos, syndactyly, and abnormalities of the respiratory and urogenital tract (summary by van Haelst et al., 2008).For a general phenotypic description and a discussion of genetic heterogeneity of Fraser syndrome, see {219000}.

Related symptoms:

  • Micrognathia
  • Hydrocephalus
  • Syndactyly
  • Abnormality of the pinna
  • Wide nose


SOURCES: OMIM ORPHANET MENDELIAN

More info about FRASER SYNDROME 3; FRASRS3

Related symptoms:

  • Short stature
  • Hypertelorism
  • High palate
  • Motor delay
  • Macrocephaly


SOURCES: OMIM MENDELIAN

More info about COLE-CARPENTER SYNDROME 2; CLCRP2

Other less relevant matches:

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

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

X-linked dominant chondrodysplasia Chassaing-Lacombe type is a rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males.

X-LINKED DOMINANT CHONDRODYSPLASIA, CHASSAING-LACOMBE TYPE Is also known as x-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Micrognathia
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED DOMINANT CHONDRODYSPLASIA, CHASSAING-LACOMBE TYPE

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:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOTHALAMIC HAMARTOMAS

Familial lambdoid synostosis is a rare, genetic cranial malformation characterized by unilateral or bilateral synostosis of the lambdoid suture in multiple members of a single family. Unilateral cases typically present ipsilateral occipitomastoid bulge, compensatory contralateral parietal and frontal bossing, displacement of one ear, lateral deviation of jaw and compensatory deformation of cervical spine while bilateral cases usually manifest with flat and widened occiput, displacement of both ears and frequent occurrence of raised intracranial pressure.

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Muscular hypotonia
  • Spasticity
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL LAMBDOID SYNOSTOSIS

Medium match FOWLER SYNDROME

The proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome is a rare, autosomal recessive, usually prenatally lethal disorder characterized by hydranencephaly, a distinctive glomerular vasculopathy in the central nervous system and retina, and diffuse ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications. It is usually diagnosed by ultrasound between 26 and 33 weeks' gestation (summary by Meyer et al., 2010). Rarely, affected individuals may survive, but are severely impaired with almost no neurologic development (Kvarnung et al., 2016).

FOWLER SYNDROME Is also known as epv|cerebral proliferative glomeruloid vasculopathy|fowler syndrome|proliferative vasculopathy and hydranencephaly/hydrocephaly|hydranencephaly, fowler type|hydrocephaly/hydranencephaly due to cerebral vasculopathy|encephaloclastic proliferative vasculopa

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about FOWLER SYNDROME

Top 5 symptoms//phenotypes associated to Micrognathia and Hydrocephalus

Symptoms // Phenotype % cases
Cleft palate Common - Between 50% and 80% cases
Macrocephaly Uncommon - Between 30% and 50% cases
Low-set ears Uncommon - Between 30% and 50% cases
Ventriculomegaly Uncommon - Between 30% and 50% cases
Agenesis of corpus callosum Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Retrognathia Depressed nasal bridge Intellectual disability Micromelia Microphthalmia Cryptorchidism Microretrognathia Midface retrusion Frontal bossing Short nose

Rare Symptoms - Less than 30% cases

Lambdoidal craniosynostosis Abnormality of the pinna Scrotal hypoplasia Postaxial hand polydactyly Wide nose Thin ribs Decreased skull ossification Cerebellar hypoplasia Postaxial polydactyly Syndactyly Craniosynostosis Anencephaly Abnormality of cardiovascular system morphology Polyhydramnios Deeply set eye Anophthalmia Intrauterine growth retardation Growth delay Platyspondyly Premature birth Global developmental delay Polydactyly Proptosis Delayed speech and language development Micropenis Wide nasal bridge Spasticity Short stature Abnormality of the skeletal system Hypertelorism Generalized hypotonia Malar flattening Abnormal facial shape Oligohydramnios Pulmonary hypoplasia Anteverted nares Occipital encephalocele Prominent forehead Hamartoma Median cleft lip Microglossia Anterior hypopituitarism Glioma Hypothalamic hamartoma Hypertonia Muscular hypotonia Cutaneous syndactyly Short ribs Short chin Sparse hair Severe global developmental delay Broad nasal tip Chorea Congenital diaphragmatic hernia Tetraparesis Short palpebral fissure Spastic tetraparesis Renal dysplasia Bicornuate uterus Hypoplastic left atrium Neoplasm Abnormal heart morphology Skeletal dysplasia Hip dislocation Protruding ear Telecanthus Flat occiput Blepharophimosis Hypsarrhythmia Skeletal muscle atrophy Dilatation Abnormality of metabolism/homeostasis Arthrogryposis multiplex congenita Dandy-Walker malformation Cerebral calcification Decreased fetal movement Lissencephaly Flexion contracture Pterygium Akinesia Hypoplasia of the brainstem Cystic hygroma Fetal akinesia sequence Hydranencephaly Limb joint contracture Multiple pterygia Visual impairment Microcephaly Facial asymmetry Anterior plagiocephaly Downturned corners of mouth Small hand Plagiocephaly Increased intracranial pressure Optic nerve hypoplasia Brachycephaly External ear malformation Arnold-Chiari type I malformation Stomatocytosis Seizures Dimple chin Craniofacial dysostosis Ectopic posterior pituitary Prominent scalp veins Round ear Diminished ability to concentrate Pansynostosis Posterior plagiocephaly Muscular hypotonia of the trunk Hypoplastic iliac wing Hernia Molar tooth sign on MRI High pitched voice Turricephaly Coronal craniosynostosis Narrow iliac wings Fractures of the long bones Low-set, posteriorly rotated ears Bifid uvula Wormian bones Laryngomalacia Absent septum pellucidum Submucous cleft hard palate Abnormality of the respiratory system Arrhinencephaly Unilateral cleft lip Abnormality of the sense of smell Reduced bone mineral density Blue sclerae Tracheal atresia Short toe Abnormal lung lobation Bilateral renal agenesis Cryptophthalmos Hypoplasia of the bladder High palate Motor delay Downslanted palpebral fissures Triangular face Kyphosis Convex nasal ridge Pectus excavatum Osteopenia Renal agenesis Postnatal growth retardation Recurrent fractures Abnormality of the fallopian tube Gingival cleft Dystonia Metaphyseal chondrodysplasia Short philtrum Short palm Short foot Depressed nasal ridge Rhizomelia 11 pairs of ribs Severe platyspondyly Hyperkeratosis Metaphyseal cupping of metacarpals Distal shortening of limbs Abnormality of the calcaneus Metaphyseal cupping of proximal phalanges Hypoplasia of the calcaneus Feeding difficulties Ventricular septal defect Wide mouth Intellectual disability, mild Brachydactyly Holoprosencephaly Hypospadias Cleft lip Cleft upper lip Oral cleft Wide intermamillary distance Ambiguous genitalia Sandal gap Aplasia/Hypoplasia of the corpus callosum Preaxial polydactyly Adrenal hypoplasia Depressed nasal tip Barrel-shaped chest Shield chest Ulnar deviation of the hand Microphallus Ulnar deviation of the hand or of fingers of the hand Severe hydrocephalus


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Tremor and Tall stature, related diseases and genetic alterations Depressed nasal bridge and Macrocephaly, related diseases and genetic alterations Obesity and Arthrogryposis multiplex congenita, related diseases and genetic alterations Flexion contracture and Neonatal hypotonia, related diseases and genetic alterations