Hydrocephalus, and Growth hormone deficiency

Diseases related with Hydrocephalus and Growth hormone deficiency

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

Top matches:

Axenfeld-Rieger syndrome is an autosomal dominant disorder of morphogenesis that results in abnormal development of the anterior segment of the eye, and results in blindness from glaucoma in approximately 50% of affected individuals (Fitch and Kaback, 1978). Systemic anomalies are associated, including dental hypoplasia, failure of involution of periumbilical skin, and maxillary hypoplasia (Alkemade, 1969). Genetic Heterogeneity of Axenfeld-Rieger SyndromeLinkage studies indicate that a second type of Axenfeld-Rieger syndrome maps to chromosome 13q14 (RIEG2 ). A third form of Axenfeld-Rieger syndrome (RIEG3 ) is caused by mutation in the FOXC1 gene (OMIM ) on chromosome 6p25.See {109120} for a form of Axenfeld-Rieger syndrome associated with partially absent eye muscles, hydrocephalus, and skeletal abnormalities.

AXENFELD-RIEGER SYNDROME, TYPE 1; RIEG1 Is also known as rieger syndrome, type 1|rgs|rieg

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about AXENFELD-RIEGER SYNDROME, TYPE 1; RIEG1

Holoprosencephaly-9 refers to a disorder characterized by a wide phenotypic spectrum of brain developmental defects, with or without overt forebrain cleavage abnormalities. It usually includes midline craniofacial anomalies involving the first branchial arch and/or orbits, pituitary hypoplasia with panhypopituitarism, and postaxial polydactyly. The disorder shows incomplete penetrance and variable expressivity (summary by Roessler et al., 2003 and Bertolacini et al., 2012).For general phenotypic information and a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 (OMIM ).

HOLOPROSENCEPHALY 9; HPE9 Is also known as holoprosencephaly with microphthalmia and first branchial arch anomalies|pituitary anomalies with holoprosencephaly-like features

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Cryptorchidism


SOURCES: OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 9; HPE9

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

Other less relevant matches:

Medium match PYCNODYSOSTOSIS

Pycnodysostosis is a genetic lysosomal disease characterized by osteosclerosis of the skeleton, short stature and brittle bones.

PYCNODYSOSTOSIS Is also known as pyknodysostosis|pycd|pknd

Related symptoms:

  • Short stature
  • Scoliosis
  • Micrognathia
  • Pain
  • Cognitive impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PYCNODYSOSTOSIS

Anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula.

ANOPHTHALMIA/MICROPHTHALMIA-ESOPHAGEAL ATRESIA SYNDROME Is also known as aeg syndrome|anophthalmia, clinical, with associated anomalies|anophthalmia-esophageal-genital syndrome|microphthalmia and esophageal atresia syndrome|mcops3|syndromic microphthalmia type 3

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ANOPHTHALMIA/MICROPHTHALMIA-ESOPHAGEAL ATRESIA SYNDROME

The term frontonasal dysplasia was coined by Sedano et al. (1970) to describe a constellation of findings limited to the face and head. The disorder is defined as 2 or more of the following: (1) true ocular hypertelorism; (2) broadening of the nasal root; (3) median facial cleft affecting the nose and/or upper lip and palate; (4) unilateral or bilateral clefting of the alae nasi; (5) lack of formation of the nasal tip; (6) anterior cranium bifidum occultum (see {168500}); and (7) a V-shaped or widow's peak frontal hairline (Sedano and Gorlin, 1988). Most reported cases are sporadic, but a few familial cases have been reported.Twigg et al. (2009) characterized frontonasal malformation (FNM) as a 'very heterogeneous group of disorders' and summarized clinical features.Also see acromelic frontonasal dysplasia (AFND ), frontofacionasal dysplasia (FFND ), oculoauriculofrontonasal syndrome (OAFNS ), the acrofrontofacionasal dysostosis syndromes ({201180}, {239710}), and craniofrontonasal syndrome (OMIM ). Genetic Heterogeneity of Frontonasal DysplasiaFrontonasal dysplasia-2 (FND2 ) is caused by mutation in the ALX4 gene (OMIM ) on chromosome 11p11. Frontonasal dysplasia-3 (FND3 ) is caused by mutation in the ALX1 gene (OMIM ) on chromosome 12q21.

FRONTONASAL DYSPLASIA 1; FND1 Is also known as frontonasal malformation|fnm|frontonasal dysplasia|median facial cleft syndrome|frontorhiny|fnd

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about FRONTONASAL DYSPLASIA 1; FND1

Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome (see this term); a distinctive hair anomaly described as loose anagen hair syndrome (see this term); frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis (see this term); and short stature, often associated with a GH deficiency and psychomotor delays.

NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR Is also known as ns/lah|tosti syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

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

Medium match 3C SYNDROME

Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterized by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies (see these terms).

3C SYNDROME Is also known as dandy-walker-like malformation with atrioventricular septal defect|craniocerebellocardiac dysplasia|3c syndrome|ritscher-schinzel syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 3C SYNDROME

Medium match H SYNDROME

H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML).

H SYNDROME Is also known as sinus histiocytosis and massive lymphadenopathy|hjcd|shml|hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss|h syndrome|faisalabad histiocytosis|pigmented hypertrichosis wi

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about H SYNDROME

Coffin-Siris syndrome is a multiple malformation syndrome characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails. Other more variable features may include poor overall growth, craniofacial abnormalities, spinal anomalies, and congenital heart defects (review by Vergano and Deardorff, 2014). Mutations in the ARID1B gene are the most common cause of Coffin-Siris syndrome (Wieczorek et al., 2013). Genetic Heterogeneity of Coffin-Siris SyndromeForms of Coffin-Siris syndrome have been shown to be caused by mutations in genes encoding subunits of the SWI/SNF complex, also known as the BAF complex, which functions as a chromatin remodeling factor. These include CSS2 (OMIM ), caused by mutation in the ARID1A gene (OMIM ); CSS3 (OMIM ), caused by mutation in the SMARCB1 gene (OMIM ); CSS4 (OMIM ), caused by mutation in the SMARCA4 gene (OMIM ); CSS5 (OMIM ), caused by mutation in the SMARCE1 gene (OMIM ); CSS6 (OMIM ), caused by mutation in the ARID2 gene (OMIM ); and CSS7 (OMIM ), caused by mutation in the DPF2 gene (OMIM ).A similar phenotype, Nicolaides-Baraitser syndrome (NCBRS ), is also caused by mutation in a subunit of this complex, i.e., SMARCA2 (OMIM ).

COFFIN-SIRIS SYNDROME 1; CSS1 Is also known as fifth digit syndrome|coffin-siris syndrome|mrd12|css|mental retardation, autosomal dominant 12

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 1; CSS1

Top 5 symptoms//phenotypes associated to Hydrocephalus and Growth hormone deficiency

Symptoms // Phenotype % cases
Short stature Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Macrocephaly Common - Between 50% and 80% cases
Ventricular septal defect Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hydrocephalus and Growth hormone deficiency. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia

Common Symptoms - More than 50% cases

Atrial septal defect

Uncommon Symptoms - Between 30% and 50% cases

Hearing impairment

Common Symptoms - More than 50% cases

Brachydactyly

Uncommon Symptoms - Between 30% and 50% cases

Scoliosis

Common Symptoms - More than 50% cases

Abnormal heart morphology

Uncommon Symptoms - Between 30% and 50% cases

Low-set ears Growth delay Frontal bossing Abnormality of the skeletal system Dilatation Wide nasal bridge Posteriorly rotated ears Ptosis Strabismus Patent ductus arteriosus Cryptorchidism Microcephaly Feeding difficulties High forehead Depressed nasal bridge Prominent forehead Downslanted palpebral fissures Pulmonic stenosis Micropenis Agenesis of corpus callosum Preauricular skin tag Postnatal growth retardation Dandy-Walker malformation Ventriculomegaly Abnormal facial shape Hypospadias Kyphosis Hypoplasia of the maxilla Hypotrichosis Low-set, posteriorly rotated ears Anteverted nares Alopecia Intrauterine growth retardation Anterior pituitary hypoplasia Epicanthus Partial agenesis of the corpus callosum Short neck Cleft palate Anophthalmia Hypoplasia of the corpus callosum Hypothyroidism Patent foramen ovale Camptodactyly Postural instability Tetralogy of Fallot Long eyelashes Craniosynostosis Delayed speech and language development Optic nerve hypoplasia Failure to thrive Micrognathia Delayed skeletal maturation Hyperpigmentation of the skin Sparse scalp hair Coloboma Eczema Ichthyosis Abnormality of cardiovascular system morphology Abnormal cardiac septum morphology Muscular hypotonia Cataract Hypogonadism Delayed eruption of teeth Brachycephaly Clinodactyly Oral cleft Inguinal hernia Cleft lip Conductive hearing impairment Umbilical hernia Short philtrum Enlarged cisterna magna Seizures Hernia Microphthalmia Midface retrusion Hemivertebrae

Rare Symptoms - Less than 30% cases

Narrow palate Abnormality of the fingernails Wormian bones Abnormal vertebral morphology Abnormality of the face Small nail Osteolysis Hydronephrosis Recurrent respiratory infections Recurrent fractures Short distal phalanx of finger Carious teeth High palate Abnormality of the kidney Feeding difficulties in infancy Apnea Hepatosplenomegaly Skeletal dysplasia Proptosis Abnormality of dental morphology Communicating hydrocephalus Splenomegaly Sleep apnea Holoprosencephaly Prominent occiput Chorioretinal coloboma Intellectual disability, mild Flexion contracture Abnormality of the dentition Visual loss Nystagmus Glaucoma Wide nose Broad nasal tip Hypertrichosis Decreased testicular size Thin upper lip vermilion Missing ribs Heterotopia Snoring Abnormality of the genital system Hypoplasia of penis Single transverse palmar crease Iris coloboma Telecanthus Anal atresia Confusion Motor delay Hypodontia Sensorineural hearing impairment Choanal atresia Anemia Hepatomegaly Blue sclerae Pain Sparse hair Hyperactivity Respiratory distress Malar flattening Polydactyly Macrotia Cognitive impairment Postaxial polydactyly Hypoglycemia Horseshoe kidney Pectus carinatum Cerebellar vermis hypoplasia High, narrow palate Wide intermamillary distance Low posterior hairline Thick lower lip vermilion Postaxial hand polydactyly Median cleft lip Neurodevelopmental delay Hypotelorism Coarctation of aorta Gastroesophageal reflux Attention deficit hyperactivity disorder Hypertrophic cardiomyopathy Webbed neck Posterior embryotoxon Arnold-Chiari type I malformation Intestinal malrotation Short nose Nasal speech Slow-growing hair Relative macrocephaly Vomiting Joint laxity Loose anagen hair Double outlet right ventricle Flat face Adrenal hypoplasia Pierre-Robin sequence Polyneuropathy Bilateral sensorineural hearing impairment Full cheeks Narrow nasal bridge Atrioventricular canal defect Amenorrhea Abnormality of the nasal bridge Ectopic anus Overgrowth Mitral valve prolapse Cardiomegaly Telangiectasia Abnormality of neuronal migration Abnormality of the hand Aplasia/Hypoplasia of the cerebellum Bronchiectasis Unilateral renal agenesis Optic atrophy Primary amenorrhea Hypoplastic left heart Epidermal acanthosis Mesomelia Congenital glaucoma Prominent nasal bridge Broad forehead Hypertriglyceridemia Hand polydactyly Epistaxis Abnormality of the hip bone Finger syndactyly Cleft upper lip Abnormality of the fontanelles or cranial sutures Primum atrial septal defect Cerebellar malformation Humoral immunodeficiency Large fontanelles Facial hemangioma Contractures of the large joints Posterior fossa cyst Abnormal tricuspid valve morphology Fever Decreased antibody level in blood Renal agenesis Limb undergrowth Mitral stenosis Lethal skeletal dysplasia Complete atrioventricular canal defect Aplasia/Hypoplasia of the nipples Abnormal mitral valve morphology Hyperreflexia Edema Hypoplastic fingernail Abnormality of the foot Toe syndactyly Syndactyly Immunodeficiency Single umbilical artery Bifid uvula Cerebellar hypoplasia Lymphadenopathy Aortic valve stenosis Pneumonia Delayed puberty Neurological speech impairment Retinopathy Pes planus Dyspnea Hyperkeratosis Diabetes mellitus Severe short stature Malabsorption Stiff skin Gingival overgrowth Renal hypoplasia Precocious puberty Elevated alkaline phosphatase Hemangioma Sacral dimple Spina bifida occulta Accelerated skeletal maturation Coxa valga Generalized hirsutism Increased body weight Low anterior hairline Tall stature Decreased fetal movement Anonychia Congenital diaphragmatic hernia Thick vermilion border Hirsutism Thick eyebrow Bulbous nose Astigmatism Synophrys Severe global developmental delay Wide mouth Autistic behavior Respiratory tract infection Cutis marmorata Ectopic kidney Aggressive behavior Gastric ulcer Lumbosacral hirsutism Hypoplastic fifth fingernail Short distal phalanx of the 5th finger Prominent interphalangeal joints Severe expressive language delay Premature thelarche Facial hypertrichosis Intussusception Duodenal ulcer Ectopic posterior pituitary Hepatoblastoma Generalized hypertrichosis Abnormality of digit Hypotrichosis of the scalp Abnormality of the head Aplasia/Hypoplasia of the patella Patellar hypoplasia Rectal prolapse Aplasia of the uterus Short sternum Neoplasm of the liver Recurrent hypoglycemia Tics Short 5th finger Dislocated radial head Abnormality of the pinna Coarse facial features Gynecomastia Increased antibody level in blood Aspiration pneumonia Abnormal eyebrow morphology Enlarged kidney Exocrine pancreatic insufficiency Severe sensorineural hearing impairment Episodic fever Polycythemia Scleroderma Lipoatrophy Microcytic anemia Elevated erythrocyte sedimentation rate Hallux valgus Decreased serum testosterone level Leukocytosis Hyperglycemia Stridor Psoriasiform dermatitis Lipodystrophy Azoospermia Plagiocephaly Type I diabetes mellitus Elbow flexion contracture Hypergonadotropic hypogonadism Aspiration Varicose veins Recurrent pharyngitis Abdominal pain Episcleritis Recurrent infections Behavioral abnormality Myopia Visual impairment Neoplasm Seborrheic keratosis Retroperitoneal fibrosis Upper eyelid edema Bilateral camptodactyly Cervical lymphadenopathy Abnormal location of ears Panniculitis Nasal obstruction Facial telangiectasia Myelofibrosis Generalized lymphadenopathy Corneal arcus Hyperplasia of the maxilla Broad finger Pancreatic hypoplasia Abnormality of cardiovascular system physiology Chronic rhinitis Reticulocytopenia Histiocytosis Skin nodule Broad fingertip Lipoma Superior pectus carinatum Increased bone mineral density Abnormality of the clavicle Abnormality of the vertebral column Agenesis of permanent teeth Osteomyelitis Abnormality of the thorax Back pain Increased susceptibility to fractures Abnormality of pelvic girdle bone morphology Abnormality of the nail Short toe Osteolytic defects of the phalanges of the hand Bone pain Abnormality of epiphysis morphology Abnormality of the skin Prominent nose Narrow chest Hyperlordosis Osteoporosis Small posterior fossa Deep palmar crease Megalencephaly Osteopetrosis Spondylolisthesis Polyhydramnios Facial palsy Esophageal atresia Increased number of teeth Vertebral fusion Spastic diplegia Tracheoesophageal fistula Hypogonadotrophic hypogonadism Spastic tetraplegia Specific learning disability Congenital cataract Abnormal pelvis bone ossification Ridged nail Persistent open anterior fontanelle Osteolytic defects of the distal phalanges of the hand Spondylolysis Absent frontal sinuses Delayed eruption of primary teeth Delayed eruption of permanent teeth Persistence of primary teeth Abnormal pattern of respiration Low back pain Small face Redundant skin Diastolic heart murmur 11 pairs of ribs Anal stenosis Axenfeld anomaly Bilateral choanal atresia Polycoria Rieger anomaly Abnormality of the abdominal wall Anterior synechiae of the anterior chamber Hypoplasia of the iris Megalocornea Aniridia Myotonia Microtia Prominent supraorbital ridges Slurred speech Reduced number of teeth Hypoplasia of dental enamel Microdontia Microcornea Everted lower lip vermilion Mandibular prognathia Blindness Muscle weakness Abnormally prominent line of Schwalbe Pulmonary hypoplasia Asymmetric ventricles Semilobar holoprosencephaly Agenesis of incisor Anterior pituitary agenesis Short hard palate Single naris Underdeveloped tragus Hypoplasia of the premaxilla Thoracic hemivertebrae Alobar holoprosencephaly Prominent antihelix Single median maxillary incisor Dental malocclusion Wide cranial sutures Median cleft lip and palate Panhypopituitarism Large forehead Abnormal cortical gyration Bilateral cleft lip and palate Skin tags Bilateral cleft lip Heart murmur Sloping forehead Sclerocornea Rib fusion Abnormality of the intervertebral disk Cyanosis Arnold-Chiari malformation Infantile muscular hypotonia Abnormal palate morphology Hypocalcemia Hoarse voice Cafe-au-lait spot Thin skin Mitral regurgitation Ventricular hypertrophy Thin vermilion border Coarse hair Joint hypermobility Dolichocephaly Retrognathia Pectus excavatum Cardiomyopathy Anterior basal encephalocele Midline facial cleft Pectoral muscle hypoplasia/aplasia Frontal cutaneous lipoma Lipoma of corpus callosum Increased intracranial pressure Deep philtrum Morning glory anomaly Fragile nails Dermal translucency Abnormality of the pulmonary artery Thickened helices Peripheral pulmonary artery stenosis Abnormality of refraction Redundant neck skin Abnormality of the testis Abnormally large globe Hypomagnesemia Hiatus hernia Failure to thrive in infancy Abnormality of the elbow Broad neck Atopic dermatitis Natal tooth Freckling Abnormality of coagulation Aplasia/Hypoplasia of the eyebrow Right bundle branch block Hypoplastic toenails Overfolded helix Cranium bifidum occultum Scleral staphyloma Gonadotropin deficiency Long philtrum Joint contracture of the hand Lymphedema Encephalocele Fine hair Oligohydramnios Underdeveloped nasal alae Talipes Intellectual disability, moderate Upslanted palpebral fissure Talipes equinovarus Easy fatigability Proximal esophageal atresia Cervical hemivertebrae Glandular hypospadias Hypothalamic hamartoma Multiple impacted teeth Absent gallbladder Vertebral hypoplasia Supernumerary ribs Butterfly vertebrae Periventricular leukomalacia Scrotal hypoplasia Preaxial polydactyly Widely-spaced maxillary central incisors Conical tooth Hypoplastic frontal sinuses Absent tibia Median cleft palate Parietal foramina Broad columella Bifid nose Agenesis of cerebellar vermis Broad philtrum Alopecia totalis Bifid nasal tip Preaxial foot polydactyly Radial deviation of finger Widow's peak Calvarial skull defect Short columella Coronal craniosynostosis Meningocele Facial cleft Occipital encephalocele Multiple lipomas Adrenal insufficiency Diabetes insipidus Short distal phalanx of the 5th toe


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