Macrocephaly, and Ichthyosis

Diseases related with Macrocephaly and Ichthyosis

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


Top matches:

Medium match CARDIOFACIOCUTANEOUS SYNDROME 2; CFC2


Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects, and mental retardation (summary by Niihori et al., 2006). In a phenotypic comparison of BRAF (OMIM )-positive and KRAS-positive individuals with CFC, Niihori et al. (2006) observed that patients with KRAS mutations did not have the skin abnormalities, such as ichthyosis, hyperkeratosis, and hemangioma, that were present in patients with BRAF mutation.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME 2; CFC2

Medium match NEVUS COMEDONICUS SYNDROME


Nevus comedonicus (NC) is a rare type of epidermal nevus with predilection for the face and neck area. The condition develops within the first decade of life in most patients. NC is characterized by dilated, plugged follicular ostia containing lamellar keratinaceous material and grouped in a honeycomb pattern; the distribution of lesions may be unilateral, bilateral, linear, interrupted, segmental, or along the lines of Blaschko. NC may be nonpyogenic with an acne-like appearance or associated with the formation of cysts, papules, pustules, and abscesses. Histologically, the lesions are large, grouped, dilated follicular ostia devoid of hair shafts but filled with keratin layers (summary by Tchernev et al., 2013).

Related symptoms:

  • Seizures
  • Microcephaly
  • Scoliosis
  • Cataract
  • Alopecia


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEVUS COMEDONICUS SYNDROME

Medium match MUCKLE-WELLS SYNDROME


Muckle-Wells syndrome (MWS) is an intermediate form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type).

MUCKLE-WELLS SYNDROME Is also known as neutrophilic urticaria

Related symptoms:

  • Short stature
  • Anemia
  • Hepatomegaly
  • Fever
  • Optic atrophy


SOURCES: ORPHANET MENDELIAN

More info about MUCKLE-WELLS SYNDROME

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Other less relevant matches:

Medium match NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1; NSLH1


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 RIN2 SYNDROME


RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly (see this term) have also been reported.

RIN2 SYNDROME Is also known as rin2 deficiency|tall forehead, sparse hair, skin hyperextensibility, and scoliosis|tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome|macrocephaly-alopecia-cutis laxa-scoliosis syndrome|macs syndrome|macrocephaly, alopecia, cutis laxa, a

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Muscular hypotonia
  • Cryptorchidism


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about RIN2 SYNDROME

Medium match X-LINKED DOMINANT CHONDRODYSPLASIA PUNCTATA


X-linked dominant chondrodysplasia punctata (CDPX2) is a rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature.

X-LINKED DOMINANT CHONDRODYSPLASIA PUNCTATA Is also known as x-linked chondrodysplasia punctata type 2|cpxd|cdpxd|conradi-hunermann-happle syndrome|happle syndrome|conradi-hunermann syndrome|cdpx2|chondrodystrophia calcificans congenita|conradi-h√únermann-happle syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Nystagmus
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED DOMINANT CHONDRODYSPLASIA PUNCTATA

Medium match MULTIPLE SULFATASE DEFICIENCY


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

Medium match MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME TYPE 2


Multiple congenital anomalies-hypotonia-seizures syndrome type 2 is a rare, genetic, lethal, neurometabolic malformation syndrome characterized by multiple, variable, congenital cardiac (systolic murmur, atrial septal defect), urinary (duplicated collecting system, vesicoureteral reflux) and central nervous system (thin corpus callosum, cerebellar hypoplasia) malformations associated with neonatal hypotonia, early-onset epileptic encephalopathy, and myoclonic seizures. Craniofacial dysmorphism (prominent occiput, enlarged fontanel, fused metopic suture, upslanted palpebral fissures, overfolded helix, depressed nasal bridge, anteverted nose, malar flattening, microstomy with downturned corners, Pierre-Robin sequence, high arched palate, short neck) and other manifestions (joint contractures, hyperreflexia, dysplastic nails, developmental delay) are also observed.

MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME TYPE 2 Is also known as epileptic encephalopathy, early infantile, 20|gpibd4|mcahs type 2|glycosylphosphatidylinositol biosynthesis defect 4|eiee20

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME TYPE 2

Medium match NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR


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 CARDIOFACIOCUTANEOUS 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

Top 5 symptoms//phenotypes associated to Macrocephaly and Ichthyosis

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
High palate Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Downslanted palpebral fissures Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Short neck

Uncommon Symptoms - Between 30% and 50% cases


Ptosis Coarse facial features Hearing impairment Sparse hair Scoliosis Posteriorly rotated ears Anteverted nares Atrial septal defect Hypertelorism Polyhydramnios Prominent forehead Alopecia Cataract Hydrocephalus Seizures Hepatomegaly Redundant skin Optic atrophy Webbed neck High forehead Low-set ears Pulmonic stenosis Generalized hypotonia Abnormal palate morphology Deep philtrum Hypertrophic cardiomyopathy Coarse hair Scaling skin Splenomegaly Strabismus Ventricular septal defect Ventriculomegaly Abnormal facial shape Short nose Delayed speech and language development Micrognathia Growth hormone deficiency Malar flattening Feeding difficulties Cerebral atrophy Depressed nasal bridge Arnold-Chiari type I malformation Retrognathia Cardiomyopathy Nystagmus Microcephaly Slow-growing hair Failure to thrive Sparse scalp hair Hyperkeratosis Low-set, posteriorly rotated ears Cryptorchidism Relative macrocephaly Joint hypermobility Long philtrum Umbilical hernia Hyperpigmentation of the skin Epicanthus

Rare Symptoms - Less than 30% cases


Hydronephrosis Frontal bossing Gingival overgrowth Postnatal growth retardation Thick lower lip vermilion Erythema Decreased body weight Depressivity Sparse and thin eyebrow Cutis laxa Clinodactyly of the 5th finger Hyperextensible skin Abnormality of the sternum Sensorineural hearing impairment Kyphosis Dandy-Walker malformation Flexion contracture Abnormality of the dentition Edema Abnormality of the skeletal system Flat face Developmental regression Limb undergrowth Cafe-au-lait spot Delayed skeletal maturation Macrotia Gastroesophageal reflux Pectus carinatum Dolichocephaly Hypotrichosis High, narrow palate Coarctation of aorta Low posterior hairline Optic nerve hypoplasia Abnormality of cardiovascular system morphology Failure to thrive in infancy Aplasia/Hypoplasia of the eyebrow Neurodevelopmental delay Atopic dermatitis Abnormality of the testis Abnormality of refraction Thickened helices Abnormality of the pulmonary artery Abnormal location of ears Pectus excavatum Vomiting Abnormality of the fingernails Overgrowth Sparse eyelashes Abnormality of hair texture Patchy alopecia Ataxia Spasticity Hyperreflexia Dysphagia Cerebellar atrophy Neonatal hypotonia Abnormality of the cerebral white matter Growth delay Encephalopathy Patent ductus arteriosus Cerebral cortical atrophy Abnormality of the eye Vesicoureteral reflux Inflammatory abnormality of the skin Cerebral visual impairment Overfolded helix Large for gestational age Infantile spasms Narrow forehead Developmental stagnation Eczema Abnormal cardiac septum morphology Loose anagen hair Deep palmar crease Nasal speech Fine hair Attention deficit hyperactivity disorder Hemangioma Joint laxity Glaucoma Hyperactivity Abnormal heart morphology Sparse eyebrow Cognitive impairment Dilatation Hypoplasia of the corpus callosum Absent eyebrow Curly hair Muscular hypotonia Scarring Thick vermilion border Nevus Myopia Bruising susceptibility Proptosis Anemia Peripheral axonal neuropathy Hernia Brachydactyly Skin rash Abnormal vertebral morphology Bilateral ptosis Constipation Hyperhidrosis Blindness Autism Inguinal hernia Dysarthria Neoplasm Abnormality of the nasal bridge Intellectual disability, severe Thrombocytopenia Osteopenia Behavioral abnormality Congestive heart failure Hypertonia Everted lower lip vermilion EEG abnormality Hypermetropia Retinal dystrophy Bulbous nose Falls Long face Abnormality of skin pigmentation Dry skin Astigmatism Genu valgum Nail dystrophy Aggressive behavior Pruritus Neurological speech impairment Leukemia Respiratory tract infection Irritability Feeding difficulties in infancy Abnormality of the kidney Peripheral neuropathy Telecanthus Broad fingertip Abnormality of the elbow Superior pectus carinatum Neuropathic arthropathy Hoarse voice Thin skin Mitral regurgitation Ventricular hypertrophy Arthropathy Cyanosis Wide intermamillary distance Thin vermilion border Infantile muscular hypotonia Carious teeth Finger syndactyly Papule Craniosynostosis Hypoglycemia Toe syndactyly Abnormality of the foot Hypothyroidism Hypocalcemia Arnold-Chiari malformation Abnormality of the intervertebral disk Hiatus hernia Dermal translucency Peripheral pulmonary artery stenosis Broad forehead Redundant neck skin Enlarged cisterna magna Abnormally large globe Hypomagnesemia Fragile nails Sleep disturbance Increased intracranial pressure Broad neck Mitral valve prolapse Natal tooth Freckling Abnormality of coagulation Right bundle branch block Hypoplastic toenails Patent foramen ovale Hepatic steatosis Cardiomegaly Palmoplantar keratoderma Delayed CNS myelination Cavernous hemangioma Excessive wrinkled skin Hyperextensibility of the finger joints Abnormal aortic valve morphology Subvalvular aortic stenosis Abnormal mitral valve morphology Gastrointestinal dysmotility Abnormal myocardium morphology Abnormality of the optic nerve Sparse or absent eyelashes Dystrophic fingernails Abnormal hair pattern Thick upper lip vermilion Woolly hair Short attention span Abnormality of the gastrointestinal tract Abnormality of the ulna Premature skin wrinkling Hypoplasia of the zygomatic bone Multiple lentigines Increased nuchal translucency Enlarged kidney Hyperkeratosis pilaris Multiple plantar creases Eyelid fasciculation Multiple palmar creases Abnormality of the auditory canal Inappropriate crying Cutaneous T-cell lymphoma Morphological abnormality of the gastrointestinal tract Puberty and gonadal disorders Abnormality of the hairline Tongue thrusting Endocarditis Functional abnormality of the gastrointestinal tract Laryngeal cleft Generalized ichthyosis Hypoplasia of the frontal lobes Optic nerve dysplasia Abnormal tricuspid valve morphology Abnormality of the optic disc Anterior creases of earlobe Frontal balding Absent eyelashes Abnormal eyelash morphology Abdominal distention Thickened skin Delayed gross motor development Abnormality of the genitourinary system Sleep apnea Aplasia/Hypoplasia of the corpus callosum Oculomotor apraxia Narrow palate Abnormality of the nail Aspiration Lymphedema Open mouth Abnormality of vision Hemiparesis Myocardial infarction Abnormality of the cardiovascular system Progressive visual loss Dental malocclusion Premature birth Intestinal malrotation Full cheeks Abnormal bleeding Palmoplantar hyperkeratosis Poor suck Alopecia of scalp Neurofibromas Poor appetite Underdeveloped supraorbital ridges Anal stenosis Submucous cleft hard palate Generalized hyperpigmentation Biparietal narrowing Multiple cafe-au-lait spots Abnormal heart valve morphology Long palpebral fissure Hydroureter Brittle hair Malnutrition Open bite Obsessive-compulsive behavior Heart murmur Chronic otitis media Cubitus valgus Melanocytic nevus Ectropion Pleural effusion Epidermal acanthosis Seborrheic dermatitis Abnormality of the hair Epiphyseal stippling Scarring alopecia of scalp Butterfly vertebrae Restrictive ventilatory defect Dry hair Concave nasal ridge Tracheal stenosis Patellar dislocation Foot polydactyly Congenital ichthyosiform erythroderma Abnormality of the voice Aplasia/Hypoplasia of the skin Bilateral talipes equinovarus Erythroderma Abnormality of the thorax Elevated erythrocyte sedimentation rate Progressive sensorineural hearing impairment Abnormality of pelvic girdle bone morphology Uveitis Broad foot Hemiatrophy Vertebral wedging Hemivertebrae Visual impairment Myalgia Mental deterioration Arthritis Hepatosplenomegaly Camptodactyly of finger Delayed puberty Nephropathy Nephrotic syndrome Abnormality of the genital system Vasculitis Hyperkeratosis with erythema Conjunctivitis Cranial nerve paralysis Urticaria Stippled calcification in carpal bones Tarsal stippling Elevated 8(9)-cholestenol Elevated 8-dehydrocholesterol Punctate vertebral calcifications Tracheal calcification Joint dislocation Rhizomelia Corneal opacity High pitched voice Abnormal lip morphology Irregular dentition Urethral stenosis Eclabion Generalized osteoporosis Abnormality of the vasculature Palpebral edema Prolonged bleeding time Premature ovarian insufficiency Infra-orbital fold Aortic aneurysm Increased susceptibility to fractures Hypergonadotropic hypogonadism Osteoporosis Hypogonadism Bronchiectasis Pes planus High myopia Hirsutism Upper eyelid edema Small posterior fossa Abnormality of epiphysis morphology Abnormality of the pinna Abnormality of the nose Recurrent aphthous stomatitis Hip dysplasia Esotropia Microcornea Postaxial polydactyly Episcleritis Talipes Hernia of the abdominal wall Renal amyloidosis Megalencephaly Intellectual disability, moderate Abnormality of the nervous system Skeletal dysplasia Kyphoscoliosis Polydactyly Midface retrusion Microphthalmia Talipes equinovarus Long eyelashes Joint stiffness Arthralgia Spina bifida Microdontia Pustule Tall stature Postnatal microcephaly Large fontanelles Nevus flammeus Small nail Hypsarrhythmia Generalized-onset seizure Neuronal loss in central nervous system Widely spaced teeth Epileptic encephalopathy Epidermal nevus Delayed myelination Gliosis Sepsis Generalized myoclonic seizures Hemolytic anemia Downturned corners of mouth Wide nose Multicystic kidney dysplasia Hamartoma Hepatic failure Breech presentation Abnormality of the pons Birth length greater than 97th percentile Olfactory lobe agenesis Alveolar ridge overgrowth Triangular mouth Micronodular cirrhosis Duplicated collecting system Hemoglobinuria Single transverse palmar crease High anterior hairline Elevated alkaline phosphatase Cardiorespiratory arrest Pierre-Robin sequence Epileptic spasms Central hypotonia Absent septum pellucidum Spina bifida occulta Prominent occiput Preaxial polydactyly Acne Short distal phalanx of finger Cirrhosis Smooth philtrum Lower limb hyperreflexia Abnormality of peripheral nerve conduction Periorbital edema CNS demyelination Olivopontocerebellar atrophy Broad hallux phalanx Large forehead Dysostosis multiplex Increased CSF protein Abnormality of the periventricular white matter Broad hallux Hypoplastic vertebral bodies Leukodystrophy Abnormality of retinal pigmentation Broad thumb Progressive neurologic deterioration Peripheral demyelination Neurodegeneration Thick eyebrow Retinal degeneration Dysmetria Mucopolysacchariduria Retrocerebellar cyst Abnormality of eye movement Myoclonus Stroke Wide mouth Apnea Comedo Muscular hypotonia of the trunk Narrow mouth Micropenis Respiratory failure Upslanted palpebral fissure Cerebellar hypoplasia Urinary glycosaminoglycan excretion Pneumonia Fever Abnormality of metabolism/homeostasis Obesity Absent speech Pes cavus Cleft palate Abdominal pain Rapid neurologic deterioration Oral aversion



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Smooth philtrum, related diseases and genetic alterations Arthritis and Paralysis, related diseases and genetic alterations

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