Hydrocephalus, and Rhizomelia

Diseases related with Hydrocephalus and Rhizomelia

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

Top matches:

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

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 ).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hepatomegaly
  • Brachydactyly
  • Abnormality of the skeletal system


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY; SRTD10

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:

Medium 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

Medium match ALG12-CDG

ALG12-CDG is a form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors. Additional features include hypogonadism with or without hypospadias in males, skeletal anomalies, seizures and cardiac anomalies in some cases. ALG12-CDG is caused by loss of function mutations of the gene ALG12 (22q13.33).

ALG12-CDG Is also known as cdg1g|mannosyltransferase 8 deficiency|congenital disorder of glycosylation type ig|cdgig|cdg ig|carbohydrate deficient glycoprotein syndrome type ig|cdg syndrome type ig|congenital disorder of glycosylation type 1g|cdg-ig

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ALG12-CDG

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

Medium match DESMOSTEROLOSIS

Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about DESMOSTEROLOSIS

Robinow syndrome, a rare skeletal dysplasia syndrome, is characterized by dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external genitalia in males, and renal and vertebral anomalies (summary by Roifman et al., 2015).For a discussion of genetic heterogeneity of Robinow syndrome, see RRS (OMIM ).

ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1; DRS1 Is also known as robinow dwarfism|acral dysostosis with facial and genital abnormalities|fetal face syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1; DRS1

Medium match ACHONDROPLASIA; ACH

Achondroplasia is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand (summary by Bellus et al., 1995).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: MESH OMIM MENDELIAN

More info about ACHONDROPLASIA; ACH

Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported.

LARSEN-LIKE SYNDROME, B3GAT3 TYPE Is also known as multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome|larsen syndrome, autosomal recessive, formerly

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LARSEN-LIKE SYNDROME, B3GAT3 TYPE

Top 5 symptoms//phenotypes associated to Hydrocephalus and Rhizomelia

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Frontal bossing Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Midface retrusion Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Depressed nasal bridge

Uncommon Symptoms - Between 30% and 50% cases

Macrocephaly Abnormality of the skeletal system Low-set ears Brachydactyly Seizures Micrognathia Severe short stature Hearing impairment Ventriculomegaly Growth delay Talipes equinovarus Abnormal facial shape Generalized hypotonia Anteverted nares Skeletal dysplasia Micromelia Mesomelia Limb undergrowth Microcephaly Short neck Malar flattening Acanthosis nigricans Posteriorly rotated ears Short long bone Muscular hypotonia Hypertelorism Obesity Thoracic hypoplasia Lumbar hyperlordosis Oral cleft Cleft palate Prominent forehead Flexion contracture Intrauterine growth retardation Scoliosis Downslanted palpebral fissures Short nose Short palm

Rare Symptoms - Less than 30% cases

Genu varum Abnormality of pelvic girdle bone morphology Flat face Ambiguous genitalia, female Chronic otitis media Flared metaphysis Scarring Limited elbow extension Disproportionate short stature Spinal canal stenosis Obstructive sleep apnea Osteopetrosis Abnormal form of the vertebral bodies Disproportionate short-limb short stature Clonus Dental crowding Bilateral talipes equinovarus Abnormality of the metaphysis Proptosis Dental malocclusion Joint hyperflexibility Wide nasal bridge Narrow chest Hyperlordosis Apnea Conductive hearing impairment Hernia Recurrent urinary tract infections Communicating hydrocephalus Metatarsus adductus Short femur Abnormal lung morphology Motor delay Elbow flexion contracture Joint contracture of the hand Low posterior hairline Spondyloepiphyseal dysplasia Toe syndactyly Hip dislocation Alveolar ridge overgrowth Hydronephrosis Clinodactyly of the 5th finger Epicanthus Strabismus Clinodactyly Epiphyseal dysplasia Microretrognathia Sandal gap Abnormality of the pinna Micropenis Narrow mouth Feeding difficulties Retrognathia Rigidity Failure to thrive Childhood onset short-limb short stature Neonatal short-limb short stature Inguinal hernia Abnormality of the elbow Talipes Ambiguous genitalia, male Hyperreflexia Delayed skeletal maturation Splenomegaly Short philtrum Bell-shaped thorax Hypoplasia of the corpus callosum Congestive heart failure Kyphosis Platyspondyly Gastroesophageal reflux 11 pairs of ribs Severe global developmental delay Hypoplastic iliac wing Otitis media Respiratory distress Genu valgum Cleft lip Cone-shaped epiphysis Epidermal acanthosis Wide mouth Tibial bowing Central apnea Metaphyseal chondrodysplasia Megalencephaly Microphthalmia Wide anterior fontanel Ventricular septal defect Redundant skin Blindness Sleep apnea Multiple joint dislocation Aplasia of the middle phalanx of the hand Talipes equinovalgus Shoulder dislocation Renal duplication Abnormality of the abdominal wall Broad toe Triangular mouth Duplication of the distal phalanx of hand Lumbar scoliosis Clitoral hypoplasia Knee dislocation Pain Endocardial fibroelastosis Weight loss Lymphoma Sleep disturbance Confusion Leukemia Abnormality of the nervous system Arthralgia Hypertension Short hard palate Deep palmar crease Delayed speech and language development Anemia Neoplasm Absent penis Right ventricular outlet obstruction Bifid distal phalanx of toe Short middle phalanx of the 5th finger Hypermetropia Elevated circulating follicle stimulating hormone level Downturned corners of mouth Broad thumb Nail dysplasia Vesicoureteral reflux Macroglossia Hypodontia Delayed eruption of teeth Small hand Wide nose Long eyelashes Thin upper lip vermilion Spatulate thumbs Umbilical hernia Broad distal phalanges of all fingers Hypogonadism Upslanted palpebral fissure Metacarpophalangeal joint hyperextensibility Prominent antitragus Gingival overgrowth Bifid tongue Overgrowth Hypertropia Misalignment of teeth Hypoplastic labia majora Capillary hemangioma Nevus flammeus Shawl scrotum Hypoplastic nipples Long palpebral fissure Abnormal vertebral morphology Radial deviation of finger Hemangioma Short chin Narrow palate Hemivertebrae Accessory carpal bones Hypergonadotropic hypogonadism Enlarged metaphyses Increased number of teeth Overlapping fingers Tetraparesis Trident hand Cardiomegaly Abnormal heart morphology Blue sclerae Mitral regurgitation Lumbar kyphosis in infancy Myelitis Spinal stenosis with reduced interpedicular distance Limited hip extension Mitral valve prolapse Left ventricular hypertrophy Brain stem compression Amblyopia Small foramen magnum Lymphedema Iritis Cervical cord compression Hypopnea Congenital diaphragmatic hernia Osteoporosis Cervical myelopathy Osteopenia Pectus carinatum Pulmonic stenosis Abnormal cardiac septum morphology Abnormality of the foot Joint laxity Arachnodactyly Pes planus Kyphoscoliosis Microdontia Thick eyebrow Recurrent fractures Cerebral cortical atrophy Short metacarpal Glaucoma Esotropia Brachycephaly Webbed neck Obstructive lung disease Meningitis Osteoarthritis Abnormally large globe Restrictive ventilatory defect Narrow nasal bridge Myeloid leukemia Aortic root aneurysm Bowel incontinence Short femoral neck Upper limb undergrowth Back pain Radioulnar synostosis Microtia Generalized osteoporosis Tinnitus Infantile muscular hypotonia Paraparesis Short toe Small face Recurrent otitis media Congenital glaucoma Patent foramen ovale Joint dislocation Cor pulmonale Central sleep apnea Chronic myelogenous leukemia Thoracolumbar kyphosis Recurrent ear infections Myelopathy Hypoxemia Accelerated skeletal maturation Multiple epiphyseal dysplasia Cutis laxa Hyperextensible skin Abnormality of femur morphology Dysuria Upper airway obstruction Generalized joint laxity Bicuspid aortic valve Spinal cord compression Hip contracture Neuroblastoma Fever Nystagmus Pectus excavatum Enlarged cerebellum Bowing of the long bones Abnormality of the ribs Sudden cardiac death Neurological speech impairment Joint stiffness Hyperhidrosis Dysarthria Aplasia/Hypoplasia of the mandible Elbow dislocation Fibular bowing Cloverleaf skull Abnormality of the clavicle Femoral bowing Exotropia Pulmonary arterial hypertension High myopia Generalized-onset seizure Wormian bones Large forehead Craniosynostosis Immunodeficiency Progressive microcephaly Abnormality of the genital system Decreased antibody level in blood Sepsis Respiratory tract infection Recurrent respiratory infections Hypospadias Edema Diaphyseal thickening Cardiomyopathy Cognitive impairment Sensorineural hearing impairment Acromelia Abnormality of the ilium Narrow sacroiliac notch Aplasia/hypoplasia of the extremities Long thorax Brain atrophy Respiratory failure Scrotal hypoplasia Distal shortening of limbs Visual loss Renal insufficiency Respiratory insufficiency Hepatomegaly Hypoplasia of the calcaneus Metaphyseal cupping of proximal phalanges Abnormality of the calcaneus Metaphyseal cupping of metacarpals Nyctalopia Severe platyspondyly Decreased skull ossification Thin ribs Depressed nasal ridge Short foot Hyperkeratosis Cerebellar hypoplasia Intellectual disability, mild Polydactyly Retinal degeneration Intellectual disability, severe Oculomotor apraxia Lateral clavicle hook Thoracic dysplasia Cone-shaped epiphyses of the phalanges of the hand Nephronophthisis Visual field defect Glucose intolerance Chronic kidney disease Short ribs Stage 5 chronic kidney disease Hepatic fibrosis Short phalanx of finger Cholestasis Cerebellar vermis hypoplasia Postaxial hand polydactyly Retinal dystrophy Postaxial polydactyly Hepatic failure Hypocalcemia Hypoplasia of the radius Dilatation Increased bone mineral density Dermal atrophy Relative macrocephaly Renal hypoplasia/aplasia Aplasia/Hypoplasia of the corpus callosum Lissencephaly Finger clinodactyly Muscle stiffness Pachygyria Abnormality of neuronal migration Status epilepticus Ambiguous genitalia Renal agenesis Intestinal malrotation Bifid uvula Polymicrogyria Arthrogryposis multiplex congenita Low-set, posteriorly rotated ears Cupped ear Partial agenesis of the corpus callosum Agenesis of corpus callosum Total anomalous pulmonary venous return Long philtrum High palate Cryptorchidism 2-4 toe syndactyly Hypoplastic nasal bridge Abnormality of cholesterol metabolism Macrogyria Abnormality of earlobe Aplasia/Hypoplasia of the skin Gingival fibromatosis Anomalous pulmonary venous return Generalized osteosclerosis Abnormality of the nose Abnormal cortical gyration Large earlobe Submucous cleft hard palate Absent septum pellucidum Telecanthus Patent ductus arteriosus Short humerus Microcornea Stenosis of the external auditory canal Microglossia Dislocated radial head 2-3 toe syndactyly Narrow palpebral fissure Congenital hip dislocation Short palpebral fissure Blepharophimosis Hypoplastic ilia Camptodactyly Deeply set eye Butterfly vertebrae Generalized edema Prolonged partial thromboplastin time Short tibia IgG deficiency Abnormality of immune system physiology Hypoplastic scapulae Redundant neck skin Syndactyly Mesomelic leg shortening Hypertonia Spasticity Abnormality of the joint spaces of the elbow Anterior rounding of vertebral bodies Absent proximal finger flexion creases Prominent protruding coccyx Abnormality of the skull base Microtia, first degree Fibular aplasia Facial hirsutism 4-5 toe syndactyly Hypoplastic pubic bone Hypoplastic ischia Long clavicles Humeroradial synostosis Wrist flexion contracture Hydranencephaly Bilateral elbow dislocations


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