Macrocephaly, and Scarring

Diseases related with Macrocephaly and Scarring

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


Top matches:

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 BRITTLE CORNEA SYNDROME 1; BCS1


Brittle cornea syndrome (BCS) is characterized by blue sclerae, corneal rupture after minor trauma, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints (Al-Hussain et al., 2004). It is classified as a form of Ehlers-Danlos syndrome (Malfait et al., 2017). Genetic Heterogeneity of Brittle Cornea SyndromeBrittle cornea syndrome-2 (BCS2 ) is caused by mutation in the PRDM5 gene (OMIM ) on chromosome 4q27.

BRITTLE CORNEA SYNDROME 1; BCS1 Is also known as ehlers-danlos syndrome, type vib, formerly|dysgenesis mesodermalis corneae et sclerae|corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility|eds6b, formerly|fragilitas oculi with joint hyperextensibility

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Epicanthus
  • Myopia
  • Macrocephaly


SOURCES: OMIM MENDELIAN

More info about BRITTLE CORNEA SYNDROME 1; BCS1

Low match JUVENILE PAGET DISEASE


Juvenile Paget disease is a very rare form of Paget disease of the bone characterized by a general increase in bone turnover with increased bone resorption and deposition, resulting in cortical and trabecular thickening, and clinically presenting as progressive skeletal deformities, growth impairment, fractures, vertebral collapse, skull enlargement and sensorineural hearing loss.

JUVENILE PAGET DISEASE Is also known as familial osteoectasia|hyperphosphatasia, familial idiopathic|juvenile paget disease|hyperostosis corticalis deformans juvenilis|hereditary hyperphosphatasia|osteoectasia, familial|hyperphosphatasemia, chronic congenital idiopathic|juvenile paget's disease

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about JUVENILE PAGET DISEASE

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Other less relevant matches:

Low match HYPOPLASMINOGENEMIA


Severe hypoplasminogenemia (HPG) or type 1 plasminogen (plg) deficiency is a systemic disease characterised by markedly impaired extracellular fibrinolysis leading to the formation of ligneous (fibrin-rich) pseudomembranes on mucosae during wound healing.

HYPOPLASMINOGENEMIA Is also known as plasminogen deficiency type 1

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hyperreflexia
  • Macrocephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPOPLASMINOGENEMIA

Low match EHLERS-DANLOS SYNDROME, PROGEROID TYPE


Ehlers-Danlos syndrome, progeroid type (EDS-PF) is a form of Ehlers-Danlos syndrome characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars.

EHLERS-DANLOS SYNDROME, PROGEROID TYPE Is also known as pds, defective biosynthesis of|ehlers-danlos syndrome with short stature and limb anomalies|edsp1, formerly|eds, progeroid type|xgpt deficiency|dermatan sulfate proteoglycan|proteodermatan sulfate, defective biosynthesis of|edssla|xylosylprotein 4-beta-ga

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, PROGEROID TYPE

Low match ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS


Encephalocraniocutaneous lipomatosis (ECCL) is a neurocutaneous disorder characterized by ocular anomalies, skin lesions, and central nervous system (CNS) anomalies (Moog et al., 2007).The malformations in ECCL are patchy and asymmetric. The most characteristic skin anomaly is nevus psiloliparus, a well-demarcated, alopecic fatty tissue nevus on the scalp, seen in 80% of affected individuals. Other dermatologic features include frontotemporal or zygomatic subcutaneous fatty lipomas, non-scarring alopecia, focal dermal hypoplasia or aplasia of the scalp, periocular skin tags, and pigmentary abnormalities following the lines of Blaschko. Choristomas of the eye (epibulbar dermoids or lipodermoids) are also present in 80% of patients, and can be unilateral or bilateral. Characteristic CNS features in ECCL include intracranial and intraspinal lipomas, seen in 61% of patients, and less often cerebral asymmetry, arachnoid cysts, enlarged ventricles, and leptomeningeal angiomatosis. A predisposition to low-grade gliomas has also been observed. Seizures and intellectual disability are common, but one-third of affected individuals have normal intellect. Skeletal manifestations include bone cysts and jaw tumors, such as odontomas, osteomas, and ossifying fibromas (summary by Bennett et al., 2016).

ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS Is also known as haberland syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Neoplasm
  • Failure to thrive


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS

Low 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

Low match ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1; DRS1


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

Low 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

Low match 2Q37 MICRODELETION SYNDROME


Deletion 2q37 or monosomy 2q37 is a chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and facial dysmorphism.

2Q37 MICRODELETION SYNDROME Is also known as albright hereditary osteodystrophy-like syndrome|del(2)(q37)|monosomy 2q37-qter|brachydactyly-intellectual disability syndrome|albright hereditary osteodystrophy type 3|brachydactyly-mental retardation syndrome|bdmr|deletion 2q37-qter|deletion 2q37

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about 2Q37 MICRODELETION SYNDROME

Top 5 symptoms//phenotypes associated to Macrocephaly and Scarring

Symptoms // Phenotype % cases
Scoliosis Common - Between 50% and 80% cases
Hearing impairment 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 Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Skeletal dysplasia Hydrocephalus Intellectual disability Frontal bossing Depressed nasal bridge Epicanthus Generalized hypotonia Abnormality of the dentition Hernia Short neck Alopecia Malar flattening Hydronephrosis Flexion contracture Seizures Ventriculomegaly Neoplasm Prominent forehead Pectus carinatum Severe short stature Aortic valve stenosis Sparse and thin eyebrow Abnormality of the nervous system Motor delay Flat face Joint hyperflexibility Cryptorchidism Failure to thrive Sensorineural hearing impairment Pain Abnormality of the skeletal system Papule Nevus Nevus flammeus Brachydactyly Abnormal vertebral morphology Rhizomelia Dandy-Walker malformation

Rare Symptoms - Less than 30% cases


Recurrent otitis media Hypoplasia of the corpus callosum Cerebellar hypoplasia Otitis media Pes planus Kyphoscoliosis Abnormal facial shape Gingival overgrowth Proptosis Muscular hypotonia Pectus excavatum Abnormality of cardiovascular system morphology Gingivitis Periodontitis Talipes equinovarus Wide nasal bridge Poor wound healing Growth delay Hypertelorism Clinodactyly of the 5th finger Chronic otitis media Sparse eyelashes Short toe Capillary hemangioma Umbilical hernia Upslanted palpebral fissure Inguinal hernia Hemangioma Anteverted nares Microcephaly Subvalvular aortic stenosis Oral cleft Abnormal aortic morphology Abnormality of pelvic girdle bone morphology Hemivertebrae Hemiatrophy Limb undergrowth Sparse hair Downslanted palpebral fissures Thin upper lip vermilion Short palm Sleep disturbance Communicating hydrocephalus Congenital diaphragmatic hernia Sparse scalp hair Conductive hearing impairment Joint dislocation Obesity Lipodystrophy Short chin Wide nose Recurrent urinary tract infections Delayed speech and language development Behavioral abnormality Microphthalmia Small hand Downturned corners of mouth Rigidity Hyperreflexia Low-set ears Mutism Hypertension Blue sclerae Premature loss of teeth Lumbar hyperlordosis Joint hypermobility Talipes Hyperlordosis Hamartoma Joint laxity Optic atrophy Hyperextensible skin Kyphosis Pneumonia Osteoporosis Brachycephaly Glaucoma Arthralgia Retinopathy Visual loss Bowing of the long bones Subcutaneous nodule Cataract Ichthyosis Finger syndactyly Toe syndactyly Atypical scarring of skin Epidermal acanthosis Bilateral single transverse palmar creases Micropenis Retrognathia Radial deviation of finger Mesomelia Long palpebral fissure Hypogonadism Increased number of teeth Hypoplastic nipples Short phalanx of finger Shawl scrotum Hypoplastic labia majora Posteriorly rotated ears Delayed skeletal maturation Cone-shaped epiphysis Hypergonadotropic hypogonadism Narrow palate Laryngomalacia Nail dysplasia Multicystic kidney dysplasia Dental malocclusion Narrow palpebral fissure Vesicoureteral reflux Long eyelashes Macroglossia Short metatarsal Wide mouth Delayed eruption of teeth Dental crowding Wide anterior fontanel Pyloric stenosis Nephroblastoma Self-injurious behavior Broad thumb Hypodontia Hypopnea Clinodactyly Broad columella Congenital ichthyosiform erythroderma Aplasia/Hypoplasia of the skin Bilateral talipes equinovarus Erythroderma Abnormality of the thorax Low hanging columella Scaling skin Coarse hair Renal neoplasm Abnormality of the fingernails Broad face Abnormality of epiphysis morphology Overweight Hip dysplasia Esotropia Microcornea Postaxial polydactyly Pain insensitivity Erythema Abnormality of the pinna Postnatal growth retardation Intellectual disability, moderate Polyhydramnios Hyperkeratosis Epiphyseal stippling Foot polydactyly Dilatation Elevated 8(9)-cholestenol Long philtrum Stereotypy Obsessive-compulsive behavior Short nose Mild short stature Supernumerary nipple Tracheomalacia High palate Micrognathia Stippled calcification in carpal bones Tarsal stippling Elevated 8-dehydrocholesterol Patellar dislocation Punctate vertebral calcifications Tracheal calcification Hyperkeratosis with erythema Vertebral wedging Patchy alopecia Scarring alopecia of scalp Butterfly vertebrae Abnormality of hair texture Dry hair Concave nasal ridge Tracheal stenosis Misalignment of teeth Aplasia of the middle phalanx of the hand Bifid tongue Tibial bowing Feeding difficulties Megalencephaly Spinal cord compression Obstructive sleep apnea Abnormality of the elbow Spinal canal stenosis Hip contracture Neuroblastoma Disproportionate short stature Myeloid leukemia Limited elbow extension Osteopetrosis Bowel incontinence Short femoral neck Flared metaphysis Spondyloepiphyseal dysplasia Epiphyseal dysplasia Back pain Genu varum Tinnitus Disproportionate short-limb short stature Short long bone Cognitive impairment Generalized joint laxity Hyporeflexia Thoracolumbar kyphosis Cervical cord compression Iritis Small foramen magnum Childhood onset short-limb short stature Cervical myelopathy Central sleep apnea Brain stem compression Neonatal short-limb short stature Chronic myelogenous leukemia Limited hip extension Trident hand Lumbar kyphosis in infancy Spinal stenosis with reduced interpedicular distance Recurrent ear infections Myelitis Myelopathy Hypoxemia Multiple epiphyseal dysplasia Cor pulmonale Abnormality of femur morphology Central apnea Dysuria Upper airway obstruction Arrhythmia Hyperactivity Elevated circulating follicle stimulating hormone level Anemia Apnea Cleft lip Round face Short metacarpal Underdeveloped nasal alae Wide intermamillary distance Gastroesophageal reflux Weight loss Eczema Narrow forehead Absent penis Leukemia Broad-based gait Right ventricular outlet obstruction Bifid distal phalanx of toe Short hard palate Duplication of the distal phalanx of hand Broad toe Obstructive lung disease Renal duplication Triangular mouth Clitoral hypoplasia Short middle phalanx of the 5th finger Broad nasal tip Micromelia Autism Paraparesis Coarse facial features Deeply set eye Infantile muscular hypotonia Aggressive behavior Feeding difficulties in infancy Sleep apnea Autistic behavior Blepharophimosis Acanthosis nigricans Attention deficit hyperactivity disorder Clonus Confusion Thin vermilion border Abnormal lung morphology Abnormality of the metaphysis Abnormal form of the vertebral bodies Osteoarthritis Tetraparesis Thick vermilion border Overgrowth Lymphoma Highly arched eyebrow Short foot Polydactyly Dysphasia Depressivity Abnormality of vision Recurrent pharyngitis Abnormality of the ovary Stomatitis Abnormality of the larynx Abnormality of the respiratory system Recurrent bronchitis Abnormality of the ear Epiphora Nephritis Recurrent upper respiratory tract infections Venous thrombosis Abnormality of the middle ear Conjunctivitis Recurrent pneumonia Hoarse voice Sinusitis Nephrolithiasis Abnormality of the skin Asthma Abnormality of the eye Abnormality of metabolism/homeostasis Blindness Hydroxyprolinemia Keratoconjunctivitis Duodenal ulcer Elevated serum acid phosphatase Skeletal muscle atrophy Abnormality of skin pigmentation Arachnodactyly Pulmonic stenosis Narrow chest Hypermetropia Broad forehead Microtia Telecanthus Osteopenia Narrow mouth Intellectual disability, mild Cleft palate Gastrointestinal inflammation Pneumomediastinum Decreased level of plasminogen Cervicitis Vaginitis Geographic tongue Chronic irritative conjunctivitis Abnormality of fontanelles Reduced factor XII activity Abnormality of the mediastinum Abnormality of the fallopian tube Abnormality of the gallbladder Hydroxyprolinuria Macular scar Single transverse palmar crease High myopia Dentinogenesis imperfecta Buphthalmos Spondylolisthesis Soft skin Megalocornea Keratoconus Disproportionate tall stature Hallux valgus Increased susceptibility to fractures Reduced bone mineral density Congenital hip dislocation Mitral valve prolapse Red hair Retinal detachment Myopia Comedo Epidermal nevus Pustule Acne Preaxial polydactyly Spina bifida occulta Spina bifida Abnormality of the hair Abnormality of the foot Hyperextensibility of the finger joints Talipes valgus Angioid streaks of the fundus Thickened calvaria Limb pain Rough bone trabeculation Cranial hyperostosis Lower limb pain Vertebral compression fractures Hyperphosphatemia Barrel-shaped chest Abnormality of the clavicle Ankylosis Severe sensorineural hearing impairment Hyperuricemia Hyperostosis Palmoplantar cutis laxa Melanocytic nevus Elevated alkaline phosphatase Increased bone mineral density Abnormality of retinal pigmentation Recurrent fractures Retinal degeneration Respiratory failure Muscle weakness Decreased corneal thickness Molluscoid pseudotumors Keratoglobus Bruising susceptibility Triangular face Edema Hypoplasia of the iris Echolalia Ectopia pupillae Dysostosis multiplex Eyelid coloboma Abnormal eyelid morphology Skin tags Sclerocornea Abnormality of the skull Arachnoid cyst Abnormal eyelash morphology Lipoma Aplasia cutis congenita Xanthomatosis Absent septum pellucidum Multiple lipomas Cortical dysplasia Aphasia Hemiplegia Sacral dimple Osteolysis Muscle stiffness Abnormality of the face Hemiparesis Pulmonary arterial hypertension Hemihypertrophy Astrocytoma Coarctation of aorta Subcutaneous lipoma Ptosis Nystagmus Lipomas of the central neryous system Abnormal cartilage morphology Linear hyperpigmentation Osteochondrosis Odontoma Neurodevelopmental abnormality Neoplasm of the skeletal system Pelvic kidney Chorioretinitis Tricuspid valve prolapse Craniofacial hyperostosis Epibulbar dermoid Abnormal nasolacrimal system morphology Subcortical cerebral atrophy Abnormal anterior chamber morphology Alopecia areata Visceral angiomatosis Glioma Interrupted aortic arch Porencephalic cyst Bone cyst Peripheral pulmonary artery stenosis Intellectual disability, profound Cerebral calcification Bifid uvula Atrophic scars Dermal translucency Long toe Small face Generalized osteoporosis Varicose veins Progeroid facial appearance Mild global developmental delay Genu recurvatum Short clavicles Proportionate short stature Curly hair Bowing of the legs Forearm undergrowth Bilateral cryptorchidism Elbow dislocation Sparse eyebrow Radioulnar synostosis Cutis laxa Accelerated skeletal maturation Coxa valga Elbow flexion contracture Thin skin Fine hair Cutaneous photosensitivity Ulnar bowing Talipes equinovalgus Tetraplegia Ventricular septal defect Iris coloboma Hypotrichosis Neurological speech impairment Corneal opacity Coloboma Paralysis Cerebral cortical atrophy Agenesis of corpus callosum Cerebral atrophy Hypertonia Atrial septal defect Spasticity Absent earlobe Palmoplantar cutis gyrata Abnormality of primary teeth Facial wrinkling Phalangeal dislocation Testicular torsion Slender toe Soft, doughy skin Large joint dislocations Prominent scalp veins Advanced ossification of carpal bones Flat forehead Self-biting



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