Microcephaly, and Blue sclerae

Diseases related with Microcephaly and Blue sclerae

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

Top matches:

Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility and low bone mass. Due to considerable phenotypic variability, Sillence et al. (1979) developed a classification of OI subtypes based on clinical features and disease severity: OI type I, with blue sclerae (OMIM ); perinatal lethal OI type II, also known as congenital OI (OMIM ); OI type III, a progressively deforming form with normal sclerae (OMIM ); and OI type IV, with normal sclerae (OMIM ). Most forms of OI are autosomal dominant with mutations in one of the 2 genes that code for type I collagen alpha chains, COL1A1 (OMIM ) and COL1A2 (OMIM ). Keupp et al. (2013) and Pyott et al. (2013) described osteogenesis imperfecta type XV, an autosomal recessive form of the disorder characterized by early-onset recurrent fractures, bone deformity, significant reduction of bone density, short stature, and, in some patients, blue sclera. Tooth development and hearing are normal. Learning and developmental delays and brain anomalies have been observed in some patients.

OSTEOGENESIS IMPERFECTA, TYPE XV; OI15 Is also known as oi, type xv

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE XV; OI15

Intellectual developmental disorder with persistence of fetal hemoglobin is characterized by delayed psychomotor development, intellectual disability, variable dysmorphic features, including microcephaly, downslanting palpebral fissures, strabismus, and external ear abnormalities, and asymptomatic persistence of fetal hemoglobin (HbF) (summary by Dias et al., 2016).Many of these features overlap with chromosome 2p16.1-p15 deletion syndrome (OMIM ).

INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN Is also known as dias-logan syndrome|intellectual developmental disorder with hereditary persistence of fetal hemoglobin

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Strabismus
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN

TELO2-RELATED INTELLECTUAL DISABILITY-NEURODEVELOPMENTAL DISORDER Is also known as you-hoover-fong syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about TELO2-RELATED INTELLECTUAL DISABILITY-NEURODEVELOPMENTAL DISORDER

Other less relevant matches:

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

Autosomal recessive cutis laxa type 2B is a rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported.

AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2B Is also known as autosomal recessive cutis laxa type 2, progeroid type|cutis laxa with progeroid features|arcl2, progeroid type|arcl2b

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2B

Perinatal lethal hypophosphatasia (PL-HPP) is a very rare form of hypophosphatasia (see this term) characterized by markedly impaired bone mineralization in utero due to reduced activity of serum alkaline phosphatase (ALP) and causing stillbirth or respiratory failure within days of birth.

PERINATAL LETHAL HYPOPHOSPHATASIA Is also known as hops|perinatal lethal rathburn disease|phosphoethanolaminuria|perinatal lethal phosphoethanolaminuria

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PERINATAL LETHAL HYPOPHOSPHATASIA

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2; MSSGM2

Goldberg-Shprintzen megacolon syndrome is a multiple malformation syndrome characterized by Hirschprung megacolon with microcephaly, hypertelorism, submucous cleft palate, short stature and learning disability.

GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME Is also known as goldberg-shprintzen megacolon syndrome|goshs|megacolon-microcephaly syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME

Mevalonic aciduria (MVA) is a rare, very severe form of mevalonate kinase deficiency (MKD; see this term) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes.

MEVALONIC ACIDURIA Is also known as mva|complete mevalonate kinase deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MEVALONIC ACIDURIA

Adams-Oliver syndrome-2 is an autosomal recessive multiple congenital anomaly syndrome characterized by aplasia cutis congenita (ACC) and terminal transverse limb defects, in association with variable involvement of the brain, eyes, and cardiovascular systems (summary by Shaheen et al., 2011).For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME 2; AOS2

Top 5 symptoms//phenotypes associated to Microcephaly and Blue sclerae

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Downslanted palpebral fissures Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Microcephaly and Blue sclerae. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Hypoplasia of the corpus callosum Epicanthus Low-set ears Short stature Ventriculomegaly Kyphoscoliosis Scoliosis Bulbous nose Cerebellar hypoplasia Muscular hypotonia Joint laxity Protruding ear Increased susceptibility to fractures Large fontanelles Platyspondyly Recurrent fractures Growth delay Spasticity Hypertelorism Failure to thrive Micrognathia Abnormal facial shape Intrauterine growth retardation

Rare Symptoms - Less than 30% cases

Hypotelorism Small for gestational age Triangular face Sparse hair Wide intermamillary distance Craniosynostosis Abnormality of the dentition Deeply set eye Macrotia Bowing of the long bones Hypoplasia of the maxilla Disproportionate short-limb short stature Delayed skeletal maturation Cerebral atrophy Posteriorly rotated ears Depressed nasal bridge Abnormality of the skeletal system Hydrocephalus Cataract Clinodactyly Prominent superficial veins Hearing impairment Autism Abnormality of the nervous system Constipation Vomiting Fever Strabismus Delayed speech and language development Cerebellar atrophy Midface retrusion Anemia Pain Joint hypermobility Everted lower lip vermilion Hypoplasia of the brainstem Optic atrophy Ataxia Brachydactyly Polymicrogyria Agenesis of corpus callosum Pectus excavatum Nystagmus Syndactyly Oligodontia Visual impairment Cleft palate Arthralgia Cerebral cortical atrophy Low-set, posteriorly rotated ears Abdominal pain Edema Elevated hepatic transaminase Obesity Hypoglycemia Hepatosplenomegaly Elevated serum creatine phosphokinase Acidosis Myopathy Diarrhea Splenomegaly Thrombocytopenia Sparse scalp hair Hepatomegaly Small hand Talipes equinovarus Short neck Hypospadias Telecanthus Camptodactyly Coloboma Short philtrum Prominent nasal bridge Finger syndactyly Severe global developmental delay Synophrys Thick eyebrow Iris coloboma Thick vermilion border Highly arched eyebrow Corneal ulceration Progressive microcephaly Corneal erosion Megalocornea Bifid scrotum Sparse eyebrow Abnormality of the genitourinary system Pointed chin Sparse and thin eyebrow Tapered finger Long eyelashes Aganglionic megacolon Pachygyria Optic disc pallor Sloping forehead Specific learning disability Abnormality of the liver Cholestatic liver disease Skin rash Low anterior hairline Abnormal heart morphology Alopecia Muscular hypotonia of the trunk Congenital cataract Short distal phalanx of finger Retinal detachment Short foot Single transverse palmar crease Gliosis Oligohydramnios Small nail Wide anterior fontanel Lymphedema Narrow palpebral fissure Dilatation Cerebral palsy Dermal atrophy Cutis marmorata Short finger Aplasia cutis congenita Corpus callosum atrophy Periventricular leukomalacia Aplasia cutis congenita of scalp Retinal fold Retrocerebellar cyst High-pitched cry Cutis marmorata telangiectatica congenita Adactyly Depressivity Microphthalmia Leukemia Severe failure to thrive Dolichocephaly Malabsorption Lymphadenopathy Lactic acidosis Retinal dystrophy Metabolic acidosis Progressive cerebellar ataxia Nevus Aciduria Underdeveloped nasal alae Clumsiness Leukocytosis Petechiae Nuclear cataract Hypertonia Organic aciduria Agenesis of cerebellar vermis Extramedullary hematopoiesis Normocytic anemia Hypoplastic anemia Glutathione synthetase deficiency Therapeutic abortion Chronic leukemia Morbilliform rash Fluctuating hepatomegaly Fluctuating splenomegaly Normocytic hypoplastic anemia Flexion contracture Macrocephaly Ventricular septal defect Intellectual disability, severe Wide nasal bridge Osteoporosis Nonimmune hydrops fetalis Pulmonary insufficiency Lens luxation Multiple prenatal fractures Broad long bones Abnormality of calvarial morphology Beaded ribs Crumpled long bones Absent ossification of calvaria Frontal bossing Malar flattening Prominent forehead Brachycephaly Metaphyseal widening Mandibular prognathia Gastroesophageal reflux Osteopenia Postnatal growth retardation Broad forehead Hip dislocation Congenital hip dislocation Cutis laxa Growth abnormality Redundant skin Premature skin wrinkling Colpocephaly Narrow nasal ridge Tibial bowing Abnormality of pelvic girdle bone morphology Recurrent respiratory infections Absent speech Arnold-Chiari malformation Thin ribs Hypoplasia of the pons Vertebral compression fractures Schizencephaly Cerebellar agenesis Retrognathia Thin upper lip vermilion Autistic behavior Overfolded helix Cupped ear Feeding difficulties Pectus carinatum Wormian bones Toe syndactyly Abnormality of movement Chorea Cerebral visual impairment Rotary nystagmus Ankyloglossia Respiratory insufficiency Congestive heart failure Pneumonia Premature birth Convex nasal ridge Coarctation of aorta Thin skin Abnormal glycosylation Polyhydramnios Ptosis Fine hair Diabetes mellitus Gait ataxia Narrow mouth Hypothyroidism Hyperlordosis Delayed puberty Dysmetria Downturned corners of mouth Full cheeks Delayed myelination Round face Renal hypoplasia Abnormal vertebral morphology Dysarthria Truncal ataxia Type I diabetes mellitus Polydipsia Hyperglycemia Polyuria Brisk reflexes High pitched voice Ketoacidosis Down-sloping shoulders Maternal diabetes Recurrent hypoglycemia Kinetic tremor Increased vertebral height Tremor Cryptorchidism Apnea Premature loss of teeth Irritability Micromelia Anorexia Bone pain Short ribs Nephrocalcinosis Hypercalciuria Intracranial hemorrhage Hypercalcemia Abnormality of the voice Rickets Bowing of the legs Hyperphosphatemia Sensorineural hearing impairment Metaphyseal cupping Skin dimples Short lower limbs Vertebral clefting Widely patent fontanelles and sutures Decreased calvarial ossification Rachitic rosary Low alkaline phosphatase Unossified vertebral bodies Skin dimple over apex of long bone angulation Elevated urine pyrophosphate Elevated plasma pyrophosphate Phosphoethanolaminuria Retinal nonattachment


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