Microcephaly, and Thin skin

Diseases related with Microcephaly and Thin skin

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

Top matches:

Fetal encasement syndrome is a rare, lethal developmental defect during embryogenesis characterized by severe fetal malformations, including craniofacial dysmorphism (abnormal cyst in the cranial region, hypoplastic eyeballs, two orifices in the nasal region separated by a nasal septum, abnormal orifice replacing the mouth), omphalocele and immotile, hypoplastic limbs encased under an abnormal, transparent, membrane-like skin. Additional features include absence of adnexal structures of the skin on the outer aspect of the limbs, as well as underdeveloped skeletal muscles and bones. Association with tetralogy of Fallot, horse-shoe kidneys and diaphragm and lung lobulation defects is reported.

FETAL ENCASEMENT SYNDROME Is also known as fetal encasement syndrome

Related symptoms:

  • Microcephaly
  • Hyperkeratosis
  • Thin skin
  • Omphalocele
  • Horseshoe kidney


SOURCES: ORPHANET OMIM MENDELIAN

More info about FETAL ENCASEMENT SYNDROME

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA; CHDED

Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera.

OSTEOGENESIS IMPERFECTA TYPE 2 Is also known as osteogenesis imperfecta congenita, perinatal lethal form|osteogenesis imperfecta congenita|oi type 2|lethal osteogenesis imperfecta|oi, type ii|oic|vrolik type of osteogenesis imperfecta

Related symptoms:

  • Microcephaly
  • Cataract
  • Respiratory insufficiency
  • Congestive heart failure
  • Abnormality of the dentition


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA TYPE 2

Other less relevant matches:

Autosomal dominant cutis laxa-3 is characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, and moderate intellectual disability. In addition, patients exhibit a combination of muscular hypotonia with brisk muscle reflexes (Fischer-Zirnsak et al., 2015).For a general phenotypic description and discussion of genetic heterogeneity of autosomal dominant cutis laxa, see ARCL1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL DOMINANT 3; ADCL3

Keppen-Lubinsky syndrome is a very rare disorder characterized by severely delayed psychomotor development, hypertonia, hyperreflexia, generalized lipodystrophy giving an aged appearance, and distinctive dysmorphic features, including microcephaly, prominent eyes, narrow nasal bridge, and open mouth (summary by Masotti et al., 2015).

KEPPEN-LUBINSKY SYNDROME Is also known as generalized lipodystrophy-progeroid features-severe intellectual disability syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about KEPPEN-LUBINSKY SYNDROME

Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit.

GERODERMA OSTEODYSPLASTICA Is also known as walt disney dwarfism|gerodermia osteodysplastica

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GERODERMA OSTEODYSPLASTICA

Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome (see this term).

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about ABLEPHARON MACROSTOMIA SYNDROME

High match SHORT SYNDROME

SHORT syndrome is a rare inherited condition of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly (see this term) and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, are manifestations of the disease.

SHORT SYNDROME Is also known as lipodystrophy-rieger anomaly-diabetes syndrome|short stature, hyperextensibility, hernia, ocular depression, rieger anomaly, and teething delay|aarskog-ose-pande syndrome|lipodystrophy, partial, with rieger anomaly and short stature|rieger anomaly-partial

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SHORT SYNDROME

High match DK1-CDG

DK1-CDG is characterised by muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome is caused by a deficiency in dolichol kinase 1 (DK1), an enzyme involved in the de novo biosynthesis of dolichol phosphate. The mutations identified in the DK1 gene led to a 96 to 98% reduction in DK activity.

DK1-CDG Is also known as cdg-im|cdg im|hypotonia and ichthyosis due to dolichol phosphate deficiency|cdg syndrome type im|congenital disorder of glycosylation type im|congenital disorder of glycosylation type 1m|cdgim|dk1 deficiency|cdg1m|carbohydrate deficient glycoprotein syndr

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Growth delay


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DK1-CDG

ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1 Is also known as eec|eec syndrome 1

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Hypertelorism
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1

Top 5 symptoms//phenotypes associated to Microcephaly and Thin skin

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Growth delay Uncommon - Between 30% and 50% cases
Hernia Uncommon - Between 30% and 50% cases
Premature skin wrinkling Uncommon - Between 30% and 50% cases
Malar flattening Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Microcephaly and Thin skin. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Delayed speech and language development Micrognathia Microdontia Scoliosis Intellectual disability Cutis laxa Muscular hypotonia Failure to thrive Talipes equinovarus Low-set ears Underdeveloped nasal alae Hip dislocation Increased susceptibility to fractures Wormian bones Corneal opacity Small for gestational age Hypoplasia of the maxilla Cataract Hearing impairment Hypertelorism Dental malocclusion Ectodermal dysplasia Prominent forehead Omphalocele Alopecia Generalized hypotonia Nystagmus Dry skin Syndactyly Hyperkeratosis Inguinal hernia

Rare Symptoms - Less than 30% cases

Postnatal growth retardation Telecanthus Toe syndactyly Seizures Excessive wrinkled skin Reduced subcutaneous adipose tissue Short stature Microtia Oligohydramnios Flexion contracture Hypodontia Hyperglycemia Triangular face Lipoatrophy Sparse and thin eyebrow Sparse eyelashes Myopia Redundant skin Short philtrum Microcornea Abnormality of the genital system Congenital hip dislocation Joint hyperflexibility Camptodactyly Joint laxity Deeply set eye Severe short stature Narrow naris Aplasia/Hypoplasia of the nipples Dimple chin Sacral dimple Progeroid facial appearance Abnormality of the outer ear Hypoplastic nipples Lipodystrophy Recurrent pneumonia Shallow orbits Short chin Osteopenia Abnormality of the dentition Sparse hair Tibial bowing Depressed nasal bridge Bowing of the long bones Feeding difficulties Spontaneous abortion Recurrent fractures Platyspondyly Sparse scalp hair Congestive heart failure Macrocephaly Respiratory insufficiency Frontal bossing Abnormal heart morphology Intrauterine growth retardation Strabismus Ichthyosis Microcytic anemia Absent speech Ventricular fibrillation Arrhythmia Neurodevelopmental delay Elevated serum creatine phosphokinase Cerebral cortical atrophy Hypoglycemia Elevated hepatic transaminase Myalgia Apnea Dilated cardiomyopathy Erythroderma Ventricular tachycardia Neutropenia Tetraplegia Bilateral talipes equinovarus Cyanosis Hypsarrhythmia Inflammatory abnormality of the skin Postnatal microcephaly Dilatation Abnormality of coagulation Bradycardia Aspiration Horseshoe kidney Severe muscular hypotonia Leukopenia Abnormal bleeding Hepatomegaly Renal insufficiency Increased body weight Glucose intolerance Upper limb undergrowth Radial deviation of finger Prominent supraorbital ridges Opacification of the corneal stroma Abnormality of dental enamel Nephrocalcinosis Insulin resistance Protruding tongue Decreased body weight Abnormality of the face Bilateral sensorineural hearing impairment Abnormality of the skin Anotia Delayed eruption of teeth Downturned corners of mouth Short palm Congenital glaucoma Abnormality of the immune system Splenomegaly Enlarged epiphyses Cardiomyopathy Myocarditis Cognitive impairment Muscle weakness Abnormality of the zygomatic bone Hypoplastic facial bones Birth length less than 3rd percentile Rieger anomaly Poor appetite Abnormality of the mandible Abnormal anterior chamber morphology Abnormal pupil morphology Increased intraocular pressure Hypoplasia of the iris Posterior embryotoxon Insulin-resistant diabetes mellitus Megalocornea Epileptic spasms Adactyly Hypoketotic hypoglycemia Split foot Sparse axillary hair Generalized hypopigmentation Anodontia Fair hair Blue irides Depressed nasal tip Bilateral cleft lip Blepharitis Dysuria Xerostomia Ectrodactyly Hypopituitarism Absent septum pellucidum Hydroureter Epiphora Keratitis Heat intolerance Rectovaginal fistula Preaxial polydactyly Nail pits Absence of Stensen duct Transverse vaginal septum Abnormal salivary gland morphology Urethral atresia Dacryocystitis Semilobar holoprosencephaly Ureterocele Abnormality of the nasopharynx Sparse pubic hair Duplicated collecting system Nasolacrimal duct obstruction Selective tooth agenesis Central diabetes insipidus Bladder diverticulum Recurrent corneal erosions Hypoplasia of the thymus Hand polydactyly Abnormality of the urinary system Congenital hepatic fibrosis Immunodeficiency Conductive hearing impairment Photophobia Micropenis Polydactyly Posteriorly rotated ears Recurrent respiratory infections Recurrent infections Fever Cleft lip Cryptorchidism Cleft palate Aplasia of the fingers Hypotrichosis Abnormal isoelectric focusing of serum transferrin Reduced antithrombin III activity Type I transferrin isoform profile Hydronephrosis Blepharophimosis Abnormality of the genitourinary system Renal agenesis Oligodontia Conjunctivitis Hypogonadotrophic hypogonadism Hypohidrosis Renal dysplasia Split hand Choanal atresia Nail dysplasia Carious teeth Growth hormone deficiency Vesicoureteral reflux Broad nasal tip Pulmonary hypoplasia Oral cleft Cleft upper lip Anal atresia Abnormality of the foot Joint hypermobility Clinodactyly Neurological speech impairment Abnormally large globe Absence of subcutaneous fat Generalized lipodystrophy Prominent nasal tip Narrow nasal ridge Large fontanelles Upper airway obstruction Disproportionate short-limb short stature Loss of facial adipose tissue Self-mutilation Abnormality of pelvic girdle bone morphology Narrow nasal bridge Opisthotonus Mask-like facies Metaphyseal widening Tented upper lip vermilion Congenital generalized lipodystrophy Tented philtrum Gingival overgrowth EEG abnormality Abnormal form of the vertebral bodies Pneumonia Talipes Pectus carinatum Abnormality of the eye Premature birth Convex nasal ridge Pes planus Narrow nasal tip Kyphoscoliosis Mandibular prognathia Osteoporosis Coarctation of aorta Blue sclerae Intellectual disability, mild Abnormality of the forehead Spastic tetraparesis Open mouth Premature loss of primary teeth Brisk reflexes Dermal translucency Calcaneovalgus deformity Beaded ribs Spinal canal stenosis Crumpled long bones Delayed cranial suture closure Unilateral renal agenesis Abnormality of calvarial morphology Adducted thumb Absent ossification of calvaria Aortic regurgitation Congenital cataract Broad forehead Autistic behavior Protruding ear Small foramen magnum Broad long bones Intellectual disability, profound Polyhydramnios Decreased testicular size Febrile seizures Nonimmune hydrops fetalis High, narrow palate Abnormality of eye movement Severe global developmental delay Pulmonary insufficiency Dyspnea Multiple prenatal fractures Proptosis Hypertonia Intellectual disability, severe Hyperreflexia High palate Lens luxation Spasticity Abnormality of epiphysis morphology Abnormality of vision Lower limb undergrowth Absent nipple Abnormality of female external genitalia Short upper lip Abnormal nasal morphology Overbite Aplasia of the sweat glands Breast hypoplasia High-frequency hearing impairment Ablepharon Labial hypoplasia Conical tooth Abnormal hair pattern Corneal erosion Abnormality of finger Hypoplasia of the zygomatic bone Abnormality of the mouth Cryptophthalmos Microtia, third degree Absent eyebrow Depressivity Macrotia Weight loss Glaucoma Diabetes mellitus Mandibular aplasia Delayed skeletal maturation Autism Midface retrusion Absent hair Wide nasal bridge Brachydactyly Abnormal facial shape Sensorineural hearing impairment Absent external genitalia Long uvula Ventral hernia Absent eyelashes Ectropion Hyperextensible skin Hyperextensibility of the finger joints Visual impairment Broad thumb Widely spaced teeth Stooped posture Pseudoepiphyses Abnormal bone ossification Biconcave vertebral bodies Vertebral compression fractures Short nose Beaking of vertebral bodies Periodontitis Irregular vertebral endplates Protuberant abdomen Prematurely aged appearance Femoral bowing Fragile nails Anteverted nares Umbilical hernia Sparse eyebrow Ambiguous genitalia Atresia of the external auditory canal Motor delay Cutaneous syndactyly Hypertrichosis Fine hair Interphalangeal joint contracture of finger Hypoplasia of penis Short metacarpal Abnormality of the pinna Thin vermilion border Abnormality of skin pigmentation Abnormal cardiac septum morphology Finger syndactyly Prominent nasal bridge Camptodactyly of finger Wide mouth Slow-growing scalp hair


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