Hydrocephalus, and Ichthyosis

Diseases related with Hydrocephalus and Ichthyosis

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

Top matches:

Medium match BRESEK SYNDROME

X-linked mental retardation, Reish type is characterised by Brain anomalies, severe mental Retardation, Ectodermal dysplasia, Skeletal deformities (vertebral anomalies, scoliosis, polydactyly), Ear/eye anomalies (maldevelopment, small optic nerves, low set and large ears with hearing loss) and Kidney dysplasia/hypoplasia (giving the acronym BRESEK syndrome).

BRESEK SYNDROME Is also known as bresheck syndrome

Related symptoms:

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


SOURCES: MESH ORPHANET MENDELIAN

More info about BRESEK SYNDROME

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

Medium match MEND SYNDROME

MEND syndrome is a rare, genetic, syndromic, sterol biosynthesis disorder affecting males characterized by skin manifestations, including collodion membrane, ichthyosis, and patchy hypopigmentary lesions, associated with severe neurological involvement (e.g. intellectual disability, delayed psychomotor development, seizures, hydrocephalus, cerebellar/corpus callosum hypoplasia, Dandy-Walker malformation, hypotonia) and craniofacial dysmorphism (large anterior fontanelle, telecanthus, hypertelorism, microphthalmia, prominent nasal bridge, low-set ears, micrognathia, cleft palate). 2,3 toe syndactyly, polydactyly, and kyphosis, as well as ophthalmic, cardiac and urogenital anomalies may also be associated.

MEND SYNDROME Is also known as male ebp disorder with neurologic defects|male ebp disorder with neurological defects

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MEND SYNDROME

Other less relevant matches:

Multiple sulfatase deficiency (MSD) is a very rare and fatal lysosomal storage disease characterized by a clinical phenotype that combines the features of different sulfatase deficiencies (whether lysosomal or not) that can have neonatal (most severe), infantile (most common) and juvenile (rare) presentations with manifestations including hypotonia, coarse facial features, mild deafness, skeletal anomalies, ichthyosis, hepatomegaly, developmental delay, progressive neurologic deterioration and hydrocephalus.

MULTIPLE SULFATASE DEFICIENCY Is also known as sulfatidosis, juvenile, austin type|mucosulfatidosis|juvenile sulfatidosis, austin type|msd

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MULTIPLE SULFATASE DEFICIENCY

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

Low 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

Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.

CARDIOFACIOCUTANEOUS SYNDROME Is also known as cfcs|cfc syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME

Lhermitte-Duclos disease (LDD) is a very rare disorder characterized by abnormal development and enlargement of the cerebellum, and an increased intracranial pressure.

LHERMITTE-DUCLOS DISEASE Is also known as dysplastic gangliocytoma of the cerebellum|ldd

Related symptoms:

  • Seizures
  • Ataxia
  • Macrocephaly
  • Hydrocephalus
  • Headache


SOURCES: ORPHANET MENDELIAN

More info about LHERMITTE-DUCLOS DISEASE

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

JACKSON-WEISS SYNDROME; JWS Is also known as craniosynostosis, midfacial hypoplasia, and foot abnormalities

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Ptosis


SOURCES: MESH OMIM MENDELIAN

More info about JACKSON-WEISS SYNDROME; JWS

Top 5 symptoms//phenotypes associated to Hydrocephalus and Ichthyosis

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases
Macrocephaly Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Ptosis Hypertelorism Generalized hypotonia Ventriculomegaly Ventricular septal defect Hearing impairment Growth delay Posteriorly rotated ears Atrial septal defect High palate Strabismus Scoliosis Prominent forehead Cryptorchidism Failure to thrive Micrognathia Abnormal cardiac septum morphology Hypotrichosis Abnormality of the skeletal system Growth hormone deficiency Hyperpigmentation of the skin Anteverted nares Low-set, posteriorly rotated ears Frontal bossing Seizures Arnold-Chiari type I malformation Relative macrocephaly Pectus carinatum Webbed neck Brachydactyly Slow-growing hair Cataract Delayed skeletal maturation Short nose Epicanthus Wide intermamillary distance Splenomegaly Hepatomegaly Depressed nasal bridge Delayed speech and language development Broad hallux Pulmonic stenosis Ataxia Hypertrophic cardiomyopathy Cleft palate Hyperkeratosis Alopecia Proptosis Feeding difficulties Downslanted palpebral fissures Abnormal palate morphology Short neck Optic nerve hypoplasia Abnormal heart morphology Hyperactivity Polyhydramnios High forehead

Rare Symptoms - Less than 30% cases

Aspiration Flat face Coarse hair Headache Sleep apnea Hepatosplenomegaly Coarse facial features Atopic dermatitis Epidermal acanthosis Abnormality of the cerebral white matter Dysphagia Cerebral atrophy Underdeveloped supraorbital ridges Neurodevelopmental delay Optic atrophy Hyperreflexia Abnormal location of ears Abnormality of the testis Abnormal facial shape Sensorineural hearing impairment Abnormality of refraction Nystagmus Cardiomegaly Intellectual disability, mild Broad hallux phalanx Cafe-au-lait spot Joint hypermobility Abnormality of the pulmonary artery Dolichocephaly Coarctation of aorta Low posterior hairline Sparse hair Craniosynostosis Umbilical hernia Gastroesophageal reflux Macrotia Hypothyroidism Increased intracranial pressure Full cheeks Deep philtrum Failure to thrive in infancy Hernia Patent ductus arteriosus Pectus excavatum Abnormality of cardiovascular system morphology High, narrow palate Vomiting Cardiomyopathy Aplasia/Hypoplasia of the eyebrow Edema Abnormality of the kidney Thickened helices Cerebral cortical atrophy Aggressive behavior Decreased testicular size Thick vermilion border Malar flattening Bulbous nose Deep palmar crease Plagiocephaly Smooth philtrum Hypoplasia of the corpus callosum Attention deficit hyperactivity disorder Vesicoureteral reflux Eczema Sparse scalp hair Nasal speech Redundant skin Midface retrusion Syndactyly Congestive heart failure Hypertonia Convex nasal ridge Long face Dandy-Walker malformation Enlarged kidney Microcephaly Intrauterine growth retardation Intellectual disability, severe 2-3 toe syndactyly Microphthalmia Narrow forehead Overfolded helix Loose anagen hair Genu valgum Brittle hair Open bite Malnutrition Hydroureter Autism Neurofibromas Kyphosis Hyperextensible skin Bilateral ptosis Osteopenia Poor suck Absent eyebrow Infantile spasms Behavioral abnormality Abnormality of the sternum Long philtrum Hyperhidrosis Depressivity Inguinal hernia Heart murmur Chronic otitis media Thrombocytopenia Cubitus valgus Melanocytic nevus Encephalopathy Large for gestational age Sparse eyebrow Ectropion Clinodactyly of the 5th finger Obsessive-compulsive behavior Abnormality of the dentition Scaling skin Constipation Pleural effusion Retinal dystrophy EEG abnormality Hypermetropia Scarring Fine hair Abnormality of the cardiovascular system Progressive visual loss Dental malocclusion Leukemia Neurological speech impairment Pruritus Premature birth Nail dystrophy Astigmatism Hemiparesis Intestinal malrotation Nevus Dry skin Peripheral axonal neuropathy Abnormality of skin pigmentation Falls Abnormal bleeding Abdominal distention Palmoplantar keratoderma Sleep disturbance Myocardial infarction Inflammatory abnormality of the skin Hydronephrosis Cutis laxa Telecanthus Bruising susceptibility Abnormality of the eye Abnormality of vision Palmoplantar hyperkeratosis Delayed gross motor development Feeding difficulties in infancy Abnormality of the genitourinary system Hemangioma Aplasia/Hypoplasia of the corpus callosum Irritability Open mouth Oculomotor apraxia Sparse eyelashes Respiratory tract infection Erythema Narrow palate Abnormality of the nail Cerebral visual impairment Lymphedema Thickened skin Decreased body weight Hepatic steatosis Sparse or absent eyelashes Long palpebral fissure Neoplasm of the thyroid gland Depressed nasal ridge Short foot Short palm Platyspondyly Short philtrum Wide mouth Cerebellar hypoplasia Trichilemmoma Enlarged cerebellum Fibroadenoma of the breast Acrokeratosis Thin ribs Ovarian neoplasm Hand polydactyly Cranial nerve paralysis Macroglossia Polymicrogyria Nausea and vomiting Papule Oral aversion Multiple plantar creases Eyelid fasciculation Rhizomelia Hypoplastic iliac wing Abnormality of the auditory canal Short metatarsal Hallux varus Broad metatarsal Craniofacial dysostosis Anterior plagiocephaly Abnormality of fibula morphology Symphalangism affecting the phalanges of the hand Preaxial foot polydactyly Turricephaly Split foot Shallow orbits Acanthosis nigricans Decreased skull ossification Hypoplasia of the maxilla Abnormality of the pinna Mandibular prognathia Hypoplasia of the calcaneus Metaphyseal cupping of proximal phalanges Abnormality of the calcaneus Distal shortening of limbs Metaphyseal cupping of metacarpals Severe platyspondyly Metaphyseal chondrodysplasia 11 pairs of ribs Multiple palmar creases Inappropriate crying Abnormal heart valve morphology Premature skin wrinkling Abnormal myocardium morphology Delayed CNS myelination Abnormality of the optic nerve Dystrophic fingernails Abnormal hair pattern Thick upper lip vermilion Woolly hair Short attention span Abnormality of the gastrointestinal tract Abnormality of the ulna Hypoplasia of the zygomatic bone Abnormal mitral valve morphology Absent eyelashes Abnormal eyelash morphology Alopecia of scalp Poor appetite Anal stenosis Submucous cleft hard palate Generalized hyperpigmentation Curly hair Biparietal narrowing Multiple cafe-au-lait spots Gastrointestinal dysmotility Subvalvular aortic stenosis Cutaneous T-cell lymphoma Patchy alopecia Morphological abnormality of the gastrointestinal tract Puberty and gonadal disorders Abnormality of the hairline Hyperkeratosis pilaris Tongue thrusting Functional abnormality of the gastrointestinal tract Laryngeal cleft Generalized ichthyosis Hypoplasia of the frontal lobes Optic nerve dysplasia Abnormal tricuspid valve morphology Abnormal aortic valve morphology Abnormality of the optic disc Anterior creases of earlobe Frontal balding Endocarditis Increased nuchal translucency Myopia Multiple lentigines Cavernous hemangioma Abnormality of hair texture Excessive wrinkled skin Hyperextensibility of the finger joints Blindness Cleft upper lip Dysarthria Lower limb hyperreflexia Abnormality of peripheral nerve conduction Periorbital edema CNS demyelination Olivopontocerebellar atrophy Developmental stagnation Large forehead Dysostosis multiplex Increased CSF protein Abnormality of the periventricular white matter Leukodystrophy Hypoplastic vertebral bodies Abnormality of retinal pigmentation Broad thumb Progressive neurologic deterioration Peripheral demyelination Neurodegeneration Thick eyebrow Retinal degeneration Dysmetria Corneal opacity Mucopolysacchariduria Retrocerebellar cyst Joint stiffness Hoarse voice Freckling Abnormality of coagulation Right bundle branch block Hypoplastic toenails Patent foramen ovale Arnold-Chiari malformation Infantile muscular hypotonia Abnormality of the fingernails Hypocalcemia Thin skin Urinary glycosaminoglycan excretion Mitral regurgitation Thick lower lip vermilion Ventricular hypertrophy Cyanosis Thin vermilion border Carious teeth Postnatal growth retardation Hypoglycemia Retrognathia Rapid neurologic deterioration Skin rash Developmental regression Broad neck Joint laxity Prominent nasal bridge Muscular hypotonia of the trunk Deeply set eye Skeletal dysplasia Polydactyly Agenesis of corpus callosum Small posterior fossa Megalencephaly Long eyelashes Dilatation Wide nose Cognitive impairment Hypoplasia of the bladder Abnormality of brain morphology Hemivertebrae Renal dysplasia Aganglionic megacolon Renal hypoplasia Postaxial hand polydactyly Iris coloboma Protruding ear Toe syndactyly Single transverse palmar crease Mental deterioration Overlapping fingers Neonatal hypotonia Cerebellar atrophy Visual impairment Spasticity Olivopontocerebellar hypoplasia Hypoplastic aortic arch Spotty hypopigmentation Long neck Otosclerosis Narrow nose Hypopigmentation of the skin Epiphyseal stippling Long fingers Ectopic kidney Overlapping toe Self-injurious behavior Sacral dimple Microretrognathia Narrow palpebral fissure Aortic valve stenosis Esotropia Natal tooth Abnormality of the elbow Muscular hypotonia Lipoatrophy Communicating hydrocephalus Varicose veins Aspiration pneumonia Abnormal eyebrow morphology Exocrine pancreatic insufficiency Severe sensorineural hearing impairment Episodic fever Polycythemia Scleroderma Microcytic anemia Recurrent pharyngitis Elevated erythrocyte sedimentation rate Increased antibody level in blood Hallux valgus Leukocytosis Hyperglycemia Stridor Psoriasiform dermatitis Lipodystrophy Azoospermia Decreased serum testosterone level Nasal obstruction Type I diabetes mellitus Panniculitis Neoplasm Seborrheic keratosis Retroperitoneal fibrosis Upper eyelid edema Bilateral camptodactyly Cervical lymphadenopathy Stiff skin Snoring Episcleritis Facial telangiectasia Skin nodule Myelofibrosis Generalized lymphadenopathy Corneal arcus Hyperplasia of the maxilla Broad finger Pancreatic hypoplasia Abnormality of cardiovascular system physiology Chronic rhinitis Reticulocytopenia Histiocytosis Osteolysis Elbow flexion contracture Hiatus hernia Anemia Micropenis Diabetes mellitus Hypogonadism Severe short stature Pneumonia Clinodactyly Fever Wide nasal bridge Flexion contracture Abnormality of the nasal bridge Pes planus Broad fingertip Superior pectus carinatum Abnormality of the intervertebral disk Dermal translucency Peripheral pulmonary artery stenosis Redundant neck skin Enlarged cisterna magna Abnormally large globe Hypomagnesemia Fragile nails Dyspnea Conductive hearing impairment Hypergonadotropic hypogonadism Bilateral sensorineural hearing impairment Gynecomastia Gingival overgrowth Telangiectasia Bronchiectasis Primary amenorrhea Hypertrichosis Hypertriglyceridemia Blue sclerae Epistaxis Mitral valve prolapse Camptodactyly Overgrowth Amenorrhea Recurrent fractures Polyneuropathy Lymphadenopathy Abnormality of the foot Delayed puberty Malabsorption Retinopathy Apnea Calcaneonavicular fusion


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Prominent nasal bridge, related diseases and genetic alterations Autoimmunity and Short palpebral fissure, related diseases and genetic alterations Delayed speech and language development and Difficulty walking, related diseases and genetic alterations