Abnormal facial shape, and Blue sclerae

Diseases related with Abnormal facial shape and Blue sclerae

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


Top matches:

Medium match OSTEOGENESIS IMPERFECTA, TYPE XI; OI11


Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. OI type XI is an autosomal recessive form of OI (summary by Alanay et al., 2010).

OSTEOGENESIS IMPERFECTA, TYPE XI; OI11 Is also known as oi, type xi

Related symptoms:

  • Short stature
  • Scoliosis
  • Flexion contracture
  • Abnormality of the dentition
  • Brachycephaly


SOURCES: OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE XI; OI11

Medium match OSTEOGENESIS IMPERFECTA, TYPE VIII; OI8


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 ). Cabral et al. (2007) described a form of autosomal recessive OI, which they designated OI type VIII, characterized by white sclerae, severe growth deficiency, extreme skeletal undermineralization, and bulbous metaphyses.

OSTEOGENESIS IMPERFECTA, TYPE VIII; OI8 Is also known as oi, type viii

Related symptoms:

  • Global developmental delay
  • Scoliosis
  • Growth delay
  • Kyphosis
  • Inguinal hernia


SOURCES: OMIM MESH MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE VIII; OI8

Medium match COLE-CARPENTER SYNDROME 2; CLCRP2


Related symptoms:

  • Short stature
  • Hypertelorism
  • High palate
  • Motor delay
  • Macrocephaly


SOURCES: OMIM MENDELIAN

More info about COLE-CARPENTER SYNDROME 2; CLCRP2

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Other less relevant matches:

Medium match EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2; EDSSPD2


The features of Ehlers-Danlos syndrome spondylodysplastic type 2 include an aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin (Okajima et al., 1999).For a discussion of genetic heterogeneity of the spondylodysplastic type of Ehlers-Danlos syndrome, see {130070}.

EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2; EDSSPD2 Is also known as ehlers-danlos syndrome, progeroid type, 2, formerly|edsp2, formerly

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Cleft palate
  • Talipes equinovarus


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2; EDSSPD2

Medium match LARON SYNDROME


Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration.

LARON SYNDROME Is also known as complete growth hormone insensitivity|primary growth hormone insensitivity|gh receptor deficiency|growth hormone receptor deficiency|laron-type dwarfism|short stature due to growth hormone resistance|pituitary dwarfism ii|primary growth hormone resistance

Related symptoms:

  • Intellectual disability
  • Micrognathia
  • Abnormal facial shape
  • Motor delay
  • Brachydactyly


SOURCES: ORPHANET MENDELIAN

More info about LARON SYNDROME

Medium match OSTEOGENESIS IMPERFECTA TYPE 3


Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI; see this term).

OSTEOGENESIS IMPERFECTA TYPE 3 Is also known as severe osteogenesis imperfecta|osteogenesis imperfecta, progressively deforming, with normal sclerae|progressive deforming osteogenesis imperfecta|oi type 3|oi, type iii

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Micrognathia
  • Macrocephaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about OSTEOGENESIS IMPERFECTA TYPE 3

Medium match COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 26


COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 26 Is also known as coxpd26

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 26

Medium match OSTEOGENESIS IMPERFECTA TYPE 5


Osteogenesis imperfecta type V is a moderate type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures with variable severity. OI type V is characterized by mild to moderate short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus, white sclera and no dentinogenesis imperfecta (DI; see this term).

OSTEOGENESIS IMPERFECTA TYPE 5 Is also known as oi type 5|oi, type v

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Macrocephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA TYPE 5

Medium match DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE


Dyssegmental dysplasia, Silverman-Handmaker type is a rare, genetic, primary bone dysplasia disorder, and lethal form of neonatal short-limbed dwarfism, characterized by anisospondyly, severe short stature and limb shortening, metaphyseal flaring and distinct dysmorphic features (i.e. flat facial appearance, abnormal ears, short neck, narrow thorax). Additional features may include other skeletal findings (e.g. joint contractures, bowed limbs, talipes equinovarus) and urogenital and cardiovascular abnormalities.

DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE Is also known as dyssegmental dwarfism, silverman-handmaker type|anisospondylic camptomicromelic dwarfism, silverman-handmaker type

Related symptoms:

  • Micrognathia
  • Cleft palate
  • Cryptorchidism
  • Wide nasal bridge
  • Talipes equinovarus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE

Medium match TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME


Temtamy preaxial brachydactyly syndrome is a rare, genetic dysostosis syndrome characterized by bilateral, symmetrical, preaxial brachydactyly associated with hyperphalangy, motor developmental delay and intellectual disability, growth retardation, sensorineural hearing loss, dental abnormalities (incuding misalignment of teeth, talon cusps, microdontia), and facial dysmorphism that includes plagiocephaly, round face, hypertelorism, malar hypoplasia, malformed ears, microstomia and micro/retrognathia.

TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME Is also known as preaxial brachydactyly syndrome, temtamy type

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Growth delay
  • Micrognathia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Blue sclerae

Symptoms // Phenotype % cases
Triangular face Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Osteopenia Uncommon - Between 30% and 50% cases
Wormian bones Uncommon - Between 30% and 50% cases
Increased susceptibility to fractures Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and Blue sclerae. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Abnormality of the dentition Scoliosis Micrognathia Platyspondyly Recurrent fractures Proptosis Generalized hypotonia Macrocephaly Pectus excavatum Growth delay Cleft palate Hearing impairment Kyphosis Narrow mouth Global developmental delay Biconcave vertebral bodies Dentinogenesis imperfecta Kyphoscoliosis Vertebral compression fractures

Rare Symptoms - Less than 30% cases


Abnormality of pelvic girdle bone morphology Talipes equinovarus Microdontia Carpal synostosis Motor delay High pitched voice Depressed nasal ridge Frontal bossing Multiple prenatal fractures Neonatal short-limb short stature Midface retrusion Severe short stature Vertebral wedging Joint laxity Intellectual disability Decreased skull ossification Short metacarpal Protrusio acetabuli Inguinal hernia Brachydactyly Narrow chest Round face Wide anterior fontanel Barrel-shaped chest Disproportionate short-limb short stature Tibial bowing Slender long bone Thin ribs Flat face Hyperlordosis Broad forehead Mixed hearing impairment Joint hypermobility Limb undergrowth Rhizomelia Relative macrocephaly Abnormality of the eye Diastema Ragged-red muscle fibers Thin upper lip vermilion Delayed myelination Dyspnea Acidosis Malabsorption Poor speech Paresthesia Lactic acidosis Cirrhosis Brain atrophy Increased serum lactate Pes planus Exercise intolerance Glucose intolerance Exertional dyspnea Mitochondrial myopathy Hitchhiker thumb Gastrointestinal dysmotility Abnormal activity of mitochondrial respiratory chain Abnormality of metabolism/homeostasis Mandibular prognathia Dislocated radial head Malar flattening Limited pronation/supination of forearm Tarsal synostosis Anisospondyly Sensorineural hearing impairment Abnormality of digit Optic atrophy Syndactyly Clinodactyly Synophrys Calvarial skull defect Highly arched eyebrow Hypodontia Bilateral sensorineural hearing impairment Short metatarsal Deep philtrum Abnormality of the hand Radioulnar synostosis Abnormality of the abdominal wall Thoracic hypoplasia Thin calvarium Posteriorly rotated ears Dense metaphyseal bands Anterior radial head dislocation Hyperplastic callus formation Cryptorchidism Wide nasal bridge Respiratory insufficiency Atrial septal defect Umbilical hernia Short long bone Joint stiffness Short hallux Micromelia Pulmonary hypoplasia Babinski sign Abnormality of the metaphysis Bowing of the long bones Overgrowth Truncal obesity Hyporeflexia Narrow iliac wings Oligohydramnios Microretrognathia Reduced bone mineral density Turricephaly Coronal craniosynostosis Lambdoidal craniosynostosis Fractures of the long bones Postnatal growth retardation Prominent forehead Sparse hair Hip dislocation Decreased body weight Cutis laxa Hyperextensible skin Craniosynostosis Retrognathia Flared metaphysis Delayed cranial suture closure Flexion contracture Brachycephaly Abnormality of the skin Coxa vara Elevated alkaline phosphatase Osteoporosis Femoral bowing Hydrocephalus Radial bowing Externally rotated/abducted legs Type 1 collagen overmodification Hypertelorism High palate Downslanted palpebral fissures Ventriculomegaly Epiphyseal dysplasia Long upper lip Myopathy Bowing of limbs due to multiple fractures Abnormality of the nervous system Pulmonary arterial hypertension Abnormality of the thorax Platybasia Basilar impression Decreased calvarial ossification Severe generalized osteoporosis Aplasia/Hypoplasia involving the nose Failure to thrive Muscle weakness Muscular hypotonia Spasticity Feeding difficulties Hyperreflexia Cardiomyopathy Hypoplastic nasal bridge Abnormality of the endocrine system Advanced ossification of carpal bones Hypoplasia of penis Craniofacial disproportion Delayed skeletal maturation High forehead Hypoglycemia Delayed puberty Delayed eruption of teeth Osteoarthritis Abnormality of the skull Hypohidrosis Short toe Hypercholesterolemia Reduced number of teeth Prematurely aged appearance Underdeveloped supraorbital ridges Abnormality of the elbow Talon cusp



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