Hydrocephalus, and Short neck

Diseases related with Hydrocephalus and Short neck

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

Top matches:

HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS Is also known as aqueductal stenosis

Related symptoms:

  • Intellectual disability
  • Seizures
  • Microcephaly
  • Hypertelorism
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS

Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Cleft palate
  • Low-set ears
  • Depressed nasal bridge
  • Abnormality of the skeletal system


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY; SRTD14

Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by Deakyne and Mazin, 2011).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

Related symptoms:

  • Global developmental delay
  • Growth delay
  • Hypertelorism
  • Neoplasm
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP L; FANCL

Other less relevant matches:

Spondyloepimetaphyseal dysplasia, Geneviève type is a rare primary bone dysplasia characterized by severe developmental delay and skeletal dysplasia (including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses), as well as moderate to severe intellectual disability and facial dysmorphism, including prominent forehead, mild synophrys, depressed nasal bridge, prominent bulbous nasal tip and full lips.

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIÈVE TYPE Is also known as nans deficiency|semd, genevieve type|semdg|semd, geneviÈve type

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIÈVE TYPE

Lethal polymalformative syndrome, Boissel type is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by failure to thrive, severe developmental delay, severe postanatal microcephaly, frequent congenital cardiac defects and characteristic facial dysmorphysm (including coarse face with anteverted nostrils, thin vermillion, prominent alveolar ridge and retro- or micrognatia). Additional common features include neurologic abnormalities (hyper-/hypotonia, sensorineural deafness, hydrocephalus, cerebral atrophy, seizures), as well as brachydactyly, cutis marmorata and genital anomalies.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LETHAL POLYMALFORMATIVE SYNDROME, BOISSEL TYPE

Noonan syndrome-like disorder with loose anagen hair is characterized by facial features similar to those observed in Noonan syndrome (OMIM ), including hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly angulated ears, and overfolded pinnae. In addition, patients display short stature, frequently with growth hormone (GH; see {139250}) deficiency; cognitive deficits; relative macrocephaly; small posterior fossa resulting in Chiari I malformation; hypernasal voice; cardiac defects, especially dysplasia of the mitral valve and septal defects; and ectodermal abnormalities, in which the most characteristic feature is the hair anomaly, including easily pluckable, sparse, thin, slow-growing hair (summary by Bertola et al., 2017). Genetic Heterogeneity of Noonan Syndrome-Like Disorder with Loose Anagen HairNSLH2 (OMIM ) is caused by mutation in the PPP1CB gene (OMIM ) on chromosome 2p23.

NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1; NSLH1 Is also known as tosti syndrome|nslh

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1; NSLH1

High match MONOSOMY 9Q22.3

Interstitial 9q22.3 microdeletion is associated with a phenotype including macrocephaly, overgrowth and trigonocephaly. Psychomotor delay, hyperactivity and distinctive facial features were also observed. It has been described in two unrelated children.

MONOSOMY 9Q22.3 Is also known as microdeletion 9q22.3

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Muscular hypotonia


SOURCES: ORPHANET MESH MENDELIAN

More info about MONOSOMY 9Q22.3

Pelviscapular dysplasia (Cousin syndrome) is characterized by the association of pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphism.

PELVISCAPULAR DYSPLASIA Is also known as craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature|familial pelvis-scapular dysplasia|cousin syndrome|pelviscapular dysplasia

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PELVISCAPULAR DYSPLASIA

Campomelic dysplasia is a very rare disorder characterised by a variable association of skeletal abnormalities (bowed and fragile long bones, pelvis and chest abnormalities, eleven rib pairs instead of the usual twelve), and extraskeletal abnormalities (facial dysmorphology, cleft palate, sexual ambiguity or sex reversal in two thirds of the affected boys, and brain, heart and kidney malformations).

CAMPOMELIC DYSPLASIA Is also known as campomelic dwarfism|cmpd1|cmpd|cmd1|cmpd1/sra1

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CAMPOMELIC DYSPLASIA

High match 3M SYNDROME

3M syndrome is a primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence.

3M SYNDROME Is also known as le merrer syndrome|3-m syndrome|3m syndrome|gloomy face syndrome|yakut short stature syndrome|dolichospondylic dysplasia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about 3M SYNDROME

Top 5 symptoms//phenotypes associated to Hydrocephalus and Short neck

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Strabismus Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Short stature Abnormality of the skeletal system Low-set ears Cleft palate Generalized hypotonia Seizures Long philtrum Depressed nasal bridge Macrocephaly Muscular hypotonia Hip dislocation Hydronephrosis Microphthalmia Intrauterine growth retardation Ventriculomegaly Hypoplasia of the corpus callosum Microcephaly Growth delay Skeletal dysplasia Joint laxity Hearing impairment Brachydactyly Abnormality of the pinna Polyhydramnios Severe short stature Micropenis Kyphosis Coarse facial features

Rare Symptoms - Less than 30% cases

Delayed eruption of teeth Joint hyperflexibility Thick lower lip vermilion Low posterior hairline Thick vermilion border Micrognathia Bulbous nose Confusion Webbed neck Relative macrocephaly Talipes equinovarus Narrow iliac wings Prominent forehead Redundant skin Hypoplastic iliac wing Hypoplastic scapulae Short nose Epicanthus Cognitive impairment Thin ribs Short long bone Congenital hip dislocation Posteriorly rotated ears Short palpebral fissure Dilatation Blepharophimosis Downslanted palpebral fissures Abnormal heart morphology Feeding difficulties Hypoplastic pubic bone Short chin Scoliosis Hypoplastic ischia Hyperactivity Respiratory distress Pectus excavatum Umbilical hernia Clinodactyly of the 5th finger Anteverted nares Ventricular septal defect High forehead Failure to thrive Hypertrophic cardiomyopathy Flat face Frontal bossing Hyporeflexia Polydactyly Narrow chest Micromelia Oral cleft Pulmonary hypoplasia Hernia Atrial septal defect Respiratory insufficiency Short ribs Retrognathia Agenesis of corpus callosum Wide nasal bridge Thoracic hypoplasia Cryptorchidism Nystagmus Hypertonia Intellectual disability, severe Elbow flexion contracture Enlarged thorax Ambiguous genitalia, female Rocker bottom foot Microcornea Neonatal respiratory distress Spina bifida occulta Scapular winging Joint dislocation Toe syndactyly Abnormality of dental enamel 4-5 toe syndactyly Camptodactyly Long clavicles Facial hirsutism Deeply set eye Alveolar ridge overgrowth Microtia, first degree Mesomelic leg shortening Horizontal ribs Abnormality of the skull base Prominent protruding coccyx Absent proximal finger flexion creases Hypoplasia of the ulna Humeroradial synostosis Narrow palpebral fissure Abnormality of the elbow 2-3 toe syndactyly Joint contracture of the hand Abnormality of the cerebral vasculature Rhizomelia Mesomelia Dislocated radial head Hypoplastic pelvis Short 5th finger Bell-shaped thorax Microglossia Stenosis of the external auditory canal Disproportionate short stature Mild short stature Short femur Hypoplastic ilia Slender long bone Redundant neck skin Abnormality of the joint spaces of the elbow Decreased fertility Ambiguous genitalia, male Fibular aplasia Hydranencephaly Wrist flexion contracture Short thorax Anterior rounding of vertebral bodies Shortening of all phalanges of the toes Pointed chin Clinodactyly Male pseudohermaphroditism Pierre-Robin sequence Broad forehead Protruding ear Postnatal growth retardation Sex reversal 11 pairs of ribs Hyperlordosis Pes planus Small face Mandibular prognathia Skin dimples Delayed skeletal maturation Hypospadias Shallow orbits Midface retrusion Neonatal short-limb short stature Malar flattening Abnormality of the sense of smell Abnormal external genitalia Laryngotracheomalacia Tracheobronchomalacia Hypoplasia of olfactory tract Hypoplastic cervical vertebrae Small abnormally formed scapulae Absent sternal ossification Hypoplastic inferior ilia Shortening of all phalanges of fingers Anterior tibial bowing Small for gestational age Dolichocephaly Narrow face Everted lower lip vermilion Abnormality of cardiovascular system morphology Proptosis Poorly ossified cervical vertebrae Conductive hearing impairment Apnea Talipes Recurrent fractures Ambiguous genitalia Depressed nasal ridge Abnormality of the metaphysis Decreased testicular size Bowing of the long bones Triangular face Wide anterior fontanel Glossoptosis Multicystic kidney dysplasia Disproportionate short-limb short stature Thick eyebrow Laryngomalacia Pterygium Bowing of the legs Bilateral talipes equinovarus Femoral bowing Tibial bowing Cystic hygroma Joint hypermobility Gonadal dysgenesis Fibular hypoplasia Tracheomalacia Kyphoscoliosis Growth hormone deficiency Cardiac fibroma Abnormality of chromosome stability Microtia Leukemia Anal atresia Full cheeks Renal hypoplasia Cafe-au-lait spot Bone marrow hypocellularity Hypoplasia of the radius Tracheoesophageal fistula Absent thumb Esophageal atresia Chromosome breakage Depressed nasal tip Rectovaginal fistula Forearm undergrowth Neoplasm Hypoplastic sacrum Ataxia Cerebral atrophy Brachycephaly Platyspondyly Synophrys Wide nose Hirsutism Abnormality of the skin Low anterior hairline Infantile muscular hypotonia Metaphyseal irregularity Spondyloepiphyseal dysplasia Flared metaphysis Anemia Short upper lip Irregular vertebral endplates Oxycephaly Spasticity Hyperreflexia Babinski sign Joint stiffness Spastic paraplegia Small hand Holoprosencephaly Increased intracranial pressure Adducted thumb Bilateral cryptorchidism Hemiplegia/hemiparesis Absent septum pellucidum Aqueductal stenosis Visceromegaly Esodeviation Aplastic clavicle Hydrops fetalis Retinal coloboma Thoracic dysplasia Upper limb undergrowth Anencephaly Molar tooth sign on MRI Preaxial polydactyly Cerebellar vermis hypoplasia Flexion contracture of thumb Congenital diaphragmatic hernia Postaxial polydactyly Polymicrogyria Coloboma Cleft lip Edema Short femoral neck Flat acetabular roof Odontogenic keratocysts of the jaw Tall stature Sparse scalp hair Long eyelashes Hyperpigmentation of the skin Nasal speech Arnold-Chiari type I malformation Megalencephaly Deep palmar crease Slow-growing hair Small posterior fossa Loose anagen hair Cataract Narrow mouth Retinopathy Abnormality of the ribs Accelerated skeletal maturation Ichthyosis Arnold-Chiari malformation Trigonocephaly Nephroblastoma Large for gestational age Basal cell carcinoma Abnormality of the vertebral column Medulloblastoma Rhabdomyosarcoma Metopic synostosis Palmar pits Calcification of falx cerebri Ovarian fibroma Thickened ears Plantar pits Eczema Pulmonic stenosis Spondyloepimetaphyseal dysplasia Thin vermilion border Small epiphyses Irregular epiphyses Carpal bone hypoplasia Long fibula Metaphyseal striations Posterior scalloping of vertebral bodies Small basal ganglia Sensorineural hearing impairment Cardiomyopathy Absent speech Obesity Patent ductus arteriosus Wide mouth Severe global developmental delay Macroglossia Attention deficit hyperactivity disorder Cutis marmorata Abnormal cardiac septum morphology Ptosis Skull asymmetry Periorbital fullness Severe failure to thrive Protruding tongue Failure to thrive in infancy Bifid uvula Lissencephaly Left ventricular hypertrophy Small nail Ventricular hypertrophy Dandy-Walker malformation Delayed myelination Increased vertebral height


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