Hydrocephalus, and Severe short stature

Diseases related with Hydrocephalus and Severe short stature

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

Top matches:

Cole-Carpenter syndrome is an extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia).

COLE-CARPENTER SYNDROME Is also known as bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome|bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about COLE-CARPENTER SYNDROME

Thanatophoric dysplasia, type 2 (TD2) is a form of TD (see this term) characterized by micromelia, straight long-bones, macrocephaly, brachydactyly, shortened ribs and a clover-leaf skull (kleeblattschaedel).

THANATOPHORIC DYSPLASIA TYPE 2 Is also known as thanatophoric dwarfism type 2|cloverleaf skull-micromelic bone dysplasia syndrome|thanatophoric dysplasia with kleeblattschaedel|thanatophoric dysplasia with straight femurs and cloverleaf skull|td2|cloverleaf skull with thanatophoric dwarfism|thanatophor

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Muscular hypotonia
  • Cognitive impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about THANATOPHORIC DYSPLASIA TYPE 2

Severe achondroplasia-developmental delay-acanthosis nigricans syndrome is characterised by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3).

SEVERE ACHONDROPLASIA-DEVELOPMENTAL DELAY-ACANTHOSIS NIGRICANS SYNDROME Is also known as saddan|saddan dysplasia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE ACHONDROPLASIA-DEVELOPMENTAL DELAY-ACANTHOSIS NIGRICANS SYNDROME

Other less relevant matches:

High match ACHONDROPLASIA

Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Muscular hypotonia
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACHONDROPLASIA

Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood.

METATROPIC DYSPLASIA Is also known as metatropic dwarfism

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Cleft palate
  • Cataract


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about METATROPIC DYSPLASIA

Thanatophoric dysplasia is a severe short-limb dwarfism syndrome that is usually lethal in the perinatal period. Norman et al. (1992) classified cases of TD into subtypes based on the presence of curved as opposed to straight femurs; patients with straight, relatively long femurs always had associated severe cloverleaf skull and were designated TD type II (TD2), while TD cases with curved, short femurs with or without cloverleaf skull were designated TD type I (TD1) (Langer et al., 1987).

THANATOPHORIC DYSPLASIA, TYPE I; TD1 Is also known as thanatophoric dysplasia|lethal short-limbed platyspondylic dwarfism, san diego type|thanatophoric dwarfism|td|platyspondylic lethal skeletal dysplasia, san diego type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about THANATOPHORIC DYSPLASIA, TYPE I; TD1

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, see SRTD1 (OMIM ).

SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY; SRTD6 Is also known as majewski syndrome|short rib-polydactyly syndrome, type ii|srps2a|srps, type ii|polydactyly with neonatal chondrodystrophy, type ii|short rib-polydactyly syndrome, type iia

Related symptoms:

  • Short stature
  • Cleft palate
  • Delayed speech and language development
  • Motor delay
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY; SRTD6

Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization.

OSTEOCRANIOSTENOSIS Is also known as habrodysplasia|osteocraniostenosis|gracile bone dysplasia|skeletal dysplasia, lethal, with gracile bones|osteocraniosplenic syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about OSTEOCRANIOSTENOSIS

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

Top 5 symptoms//phenotypes associated to Hydrocephalus and Severe short stature

Symptoms // Phenotype % cases
Skeletal dysplasia Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Brachydactyly Common - Between 50% and 80% cases
Kyphosis Common - Between 50% and 80% cases
Macrocephaly Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hydrocephalus and Severe short stature. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Depressed nasal bridge

Uncommon Symptoms - Between 30% and 50% cases

Frontal bossing

Common Symptoms - More than 50% cases

Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases

Hearing impairment

Common Symptoms - More than 50% cases

Narrow chest

Uncommon Symptoms - Between 30% and 50% cases

Micromelia Respiratory insufficiency Platyspondyly Bowing of the long bones Disproportionate short-limb short stature Abnormality of the metaphysis Redundant skin Seizures Cleft palate Muscular hypotonia Proptosis Abnormality of the skeletal system Hypertelorism Limb undergrowth Short ribs Acanthosis nigricans Generalized hypotonia Cloverleaf skull Flared metaphysis Ventriculomegaly Craniosynostosis Midface retrusion Mesomelia Atrial septal defect Polyhydramnios Failure to thrive Growth delay Flat face Short long bone Decreased fetal movement Ambiguous genitalia Femoral bowing Wide anterior fontanel Scoliosis Joint stiffness Small abnormally formed scapulae Aplasia/Hypoplasia of the lungs Short femur Hypoplastic ilia Small face Rhizomelia Micrognathia Low-set ears Recurrent fractures Intrauterine growth retardation Abnormal form of the vertebral bodies Abnormality of the ribs Pulmonary hypoplasia Joint hyperflexibility

Rare Symptoms - Less than 30% cases

Thoracic hypoplasia Lethal skeletal dysplasia Motor delay Polymicrogyria Tibial bowing Hypoplastic cervical vertebrae Respiratory distress Anteverted nares Micropenis Microglossia Abnormal facial shape Microphthalmia Conductive hearing impairment Apnea Hypoplastic iliac wing Severe platyspondyly Lumbar hyperlordosis Long thorax Abnormal heart morphology Aplasia/hypoplasia of the extremities Hip dislocation Blepharophimosis Short palpebral fissure Hydronephrosis Clinodactyly of the 5th finger Neonatal short-limb short stature Prominent forehead High forehead Kyphoscoliosis Short neck Talipes equinovarus Thin ribs Hypoplastic scapulae Spondylometaphyseal dysplasia Epidermal acanthosis Megalencephaly Respiratory failure Small foramen magnum Edema Osteopenia Hydrops fetalis Wormian bones Patent ductus arteriosus Abnormality of the kidney Metaphyseal irregularity Abnormality of neuronal migration Increased nuchal translucency Severe short-limb dwarfism Short sacroiliac notch Lethal short-limbed short stature Shallow orbits Wide-cupped costochondral junctions Intellectual disability Microcephaly Anterior rounding of vertebral bodies Hypospadias Clinodactyly Pneumonia Coarse facial features Short philtrum Tracheobronchomalacia Small for gestational age Ascites Abdominal distention Oligohydramnios Laryngotracheomalacia Cardiac arrest Progressive microcephaly Hypocalcemia Growth abnormality Hyperostosis Abnormal external genitalia Abnormality of the sense of smell Hypokinesia Slender long bone Narrow iliac wings Aniridia Severe intrauterine growth retardation Radial bowing Asplenia Short nose Disproportionate shortening of the tibia Abnormality of the joint spaces of the elbow Abnormality of the larynx Abnormality of the genital system Hepatic fibrosis Polycystic kidney dysplasia Poorly ossified cervical vertebrae Tricuspid regurgitation Preaxial hand polydactyly Median cleft lip Anterior tibial bowing Short tibia Thoracic dysplasia Abnormality of cardiovascular system morphology Dilation of lateral ventricles Long philtrum Postaxial polysyndactyly of foot Lateral clavicle hook Shortening of all phalanges of fingers Median cleft lip and palate Horizontal ribs Hamartoma of tongue Hypoplastic inferior ilia Hypoplasia of the epiglottis Pancreatic fibrosis Shortening of the tibia Polysyndactyly of hallux Absent sternal ossification Hypoplasia of olfactory tract Short hallux Ankyloglossia Decreased skull ossification Hydranencephaly Bowing of the legs Bell-shaped thorax Stenosis of the external auditory canal Pterygium Relative macrocephaly Depressed nasal ridge Redundant neck skin Ambiguous genitalia, male Prominent protruding coccyx Fibular aplasia Laryngomalacia Short chin Wrist flexion contracture 2-3 toe syndactyly Humeroradial synostosis Multicystic kidney dysplasia Abnormality of the skull base Long clavicles Hypoplastic ischia Ambiguous genitalia, female Hypoplastic pubic bone 4-5 toe syndactyly Facial hirsutism Alveolar ridge overgrowth Microtia, first degree Mesomelic leg shortening Dislocated radial head Narrow palpebral fissure Thin clavicles Tracheomalacia Overtubulated long bones Hypoplastic spleen Strabismus Skin dimples 11 pairs of ribs Sex reversal Talipes Pierre-Robin sequence Male pseudohermaphroditism Posteriorly rotated ears Deeply set eye Glossoptosis Camptodactyly Congenital hip dislocation Abnormality of the pinna Fibular hypoplasia Gonadal dysgenesis Cystic hygroma Bilateral talipes equinovarus Absent proximal finger flexion creases Toe syndactyly Microcornea Low posterior hairline Webbed neck Joint contracture of the hand Elbow flexion contracture Pachygyria Enlarged joints Cerebellar vermis hypoplasia Dysarthria Otitis media Generalized-onset seizure High myopia Pulmonary arterial hypertension Exotropia Sleep apnea Abnormality of the clavicle Central apnea Metaphyseal chondrodysplasia Fibular bowing Aplasia/Hypoplasia of the mandible Enlarged cerebellum Hyperreflexia Malar flattening Severe global developmental delay Obesity Hyperhidrosis Hyperlordosis Neurological speech impairment Short palm Sudden cardiac death Dental malocclusion Dental crowding Clonus Genu varum Abnormality of pelvic girdle bone morphology Elbow dislocation Chronic otitis media Limited elbow extension Brain atrophy Gastroesophageal reflux Spinal canal stenosis Turricephaly High palate Downslanted palpebral fissures Bruising susceptibility Delayed eruption of teeth Microdontia Blue sclerae Abnormality of dental enamel Increased susceptibility to fractures Abnormality of the voice High pitched voice Pathologic fracture Hyperthyroidism Central hypotonia Coronal craniosynostosis Congestive heart failure Communicating hydrocephalus Vertebral compression fractures Severe hydrops fetalis Multiple suture craniosynostosis Crumpled long bones Orbital craniosynostosis Cognitive impairment Limitation of joint mobility Encephalocele Holoprosencephaly Short thorax Occipital encephalocele Hypoplasia of the corpus callosum Intellectual disability, severe Disproportionate short stature Obstructive sleep apnea Postaxial hand polydactyly Radioulnar synostosis Short diaphyses Flared humeral metaphysis Snail-like ilia Relatively short spine Abnormal metaphyseal vascular invasion Long coccyx Dumbbell-shaped metaphyses Halberd-shaped pelvis Hyperplasia of the femoral trochanters Absent primary metaphyseal spongiosa Intellectual disability, profound Split hand Heterotopia Excessive wrinkled skin Anisospondyly Craniofacial dysostosis Delayed speech and language development Ventricular septal defect Brachycephaly Polydactyly Cleft lip Pectus carinatum Hypermetropia Astigmatism Oral cleft Cleft upper lip Retinal dystrophy Renal cyst Intestinal malrotation Flared femoral metaphysis Abnormal enchondral ossification Abnormality of the elbow Interphalangeal joint contracture of finger Large forehead Diaphyseal thickening Narrow sacroiliac notch Childhood onset short-limb short stature Abnormality of the ilium Acromelia Cataract Flexion contracture Low-set, posteriorly rotated ears Camptodactyly of finger Arthrogryposis multiplex congenita Confusion Peripheral axonal neuropathy Osteoarthritis Cervical instability Epiphyseal dysplasia Akinesia Multiple joint contractures Short finger Abnormal joint morphology Hypoplasia of the odontoid process Fetal akinesia sequence Abnormal cortical bone morphology Flared iliac wings Rough bone trabeculation Thoracic kyphoscoliosis Abnormality of the intervertebral disk Caudal appendage Pseudoarthrosis Shortening of all phalanges of the toes


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