Global developmental delay, and Proptosis

Diseases related with Global developmental delay and Proptosis

In the following list you will find some of the most common rare diseases related to Global developmental delay and Proptosis that can help you solving undiagnosed cases.

Top matches:

Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Cleft palate
  • Agenesis of corpus callosum
  • Proptosis


SOURCES: OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 11; HPE11

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: MESH OMIM MENDELIAN

More info about MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE; MCPH3

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 51; MRD51

Other less relevant matches:

Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare hyperthyroidism (see this term) characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history.

FAMILIAL HYPERTHYROIDISM DUE TO MUTATIONS IN TSH RECEPTOR Is also known as hyperthyroidism, nonautoimmune, autosomal dominant|toxic thyroid hyperplasia, autosomal dominant|familial non-immune hyperthyroidism|resistance to thyroid stimulating hormone|hyperthyroidism, congenital nonautoimmune

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Delayed speech and language development
  • Motor delay
  • Diarrhea


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about FAMILIAL HYPERTHYROIDISM DUE TO MUTATIONS IN TSH RECEPTOR

Microcephaly and chorioretinopathy-2 is an autosomal recessive developmental disorder characterized by delayed psychomotor development, visual impairment, and short stature (summary by Martin et al., 2014).For a discussion of genetic heterogeneity of microcephaly and chorioretinopathy, see MCCRP1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2; MCCRP2

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

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

Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Abnormal facial shape
  • Anemia


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES

NDE1-related microhydranencephaly is a rare, hereditary syndrome with a central nervous system malformation as major feature characterized by extreme microcephaly and growth restriction, severe motor delay and mental retardation, and typical radiological findings of gross dilation of the ventricles resulting from the absence (or severe delay in the development) of cerebral hemispheres, hypoplasia of the corpus callosum, cerebellum, and brainstem. Associated features are thin bones and scalp rugae.

NDE1-RELATED MICROHYDRANENCEPHALY Is also known as hydranencephaly and microcephaly|mhac

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about NDE1-RELATED MICROHYDRANENCEPHALY

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

Top 5 symptoms//phenotypes associated to Global developmental delay and Proptosis

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
Small for gestational age Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Global developmental delay and Proptosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Sloping forehead Talipes equinovarus Motor delay Sparse hair Osteopenia Generalized hypotonia Delayed speech and language development

Rare Symptoms - Less than 30% cases

High forehead Profound global developmental delay Abnormal facial shape Macrocephaly Ventriculomegaly Frontal bossing Anteverted nares Hypoplasia of the brainstem Posteriorly rotated ears Severe short stature Cerebellar hypoplasia Cortical gyral simplification Seizures Platyspondyly Agenesis of corpus callosum Prominent nose Cleft palate Blue sclerae Externally rotated/abducted legs Recurrent infections Multiple prenatal fractures Telecanthus Talipes Hyperextensible skin Short distal phalanx of finger Type 1 collagen overmodification Sparse and thin eyebrow Hypopigmented skin patches Spotty hypopigmentation Anisopoikilocytosis Spasticity Hypopigmentation of the skin Depressed nasal bridge Pectus excavatum Long upper lip Epiphyseal dysplasia Flared metaphysis Hyperreflexia Cutis laxa Carpal synostosis Decreased body weight Flat face Brachydactyly Hip dislocation Advanced ossification of carpal bones Kyphoscoliosis Prominent forehead Craniofacial disproportion Anemia Flexion contracture Pachygyria Skeletal muscle atrophy Pulmonic stenosis Downslanted palpebral fissures Short neck Cardiomyopathy Atrial septal defect Hyperkeratosis Coarse facial features Low-set, posteriorly rotated ears Broad forehead Peripheral axonal neuropathy Peripheral neuropathy Ichthyosis Mitral valve prolapse Fine hair Hemangioma Bilateral ptosis Sparse eyebrow Absent eyebrow Curly hair Arthropathy Myopia High palate Hypoplasia of the corpus callosum Knee flexion contracture Hydrocephalus Intellectual disability, severe Macrotia Prominent nasal bridge Generalized myoclonic seizures Brain atrophy Spastic tetraplegia Tetraparesis Vertebral compression fractures Intellectual disability, progressive Low-set ears Poor head control Athetosis Multiple joint contractures Generalized amyotrophy Self-mutilation Hydranencephaly Severe hydrocephalus Hypertelorism Ptosis Decreased skull ossification Round face Barrel-shaped chest Tall stature Absent speech Autism Autistic behavior Microtia Abnormality of the foot Facial asymmetry Febrile seizures Diarrhea Epicanthus Abnormality of metabolism/homeostasis Hyperactivity Weight loss Tachycardia Sleep disturbance Premature birth Accelerated skeletal maturation Tachypnea Immunodeficiency Cryptorchidism Agitation Hearing impairment Cleft lip Synophrys Oral cleft Thick eyebrow Growth hormone deficiency Hypotelorism Holoprosencephaly Polysplenia Sensorineural hearing impairment Small cerebral cortex Muscular hypotonia Behavioral abnormality Aggressive behavior Intellectual disability, moderate Cafe-au-lait spot Progressive microcephaly Widely spaced teeth Severe sensorineural hearing impairment Goiter Hyperthyroidism Radial bowing Short metacarpal Scoliosis Kyphosis Inguinal hernia Osteoporosis Joint laxity Narrow chest Recurrent fractures Triangular face Wide anterior fontanel Optic nerve hypoplasia Wormian bones Disproportionate short-limb short stature Increased susceptibility to fractures Delayed cranial suture closure Femoral bowing Tibial bowing Slender long bone Thin ribs Macular atrophy Optic disc pallor Hand tremor Micrognathia Autoimmune antibody positivity Graves disease Abnormal eye morphology Thyroid hyperplasia Thyrotoxicosis with diffuse goiter Eyelid retraction Activating thyroid-stimulating hormone receptor defect Pretibial myxedema Strabismus Microcornea Cataract Visual impairment Intrauterine growth retardation Optic atrophy Cerebellar atrophy Microphthalmia Cerebral atrophy Retinopathy Neuropathic arthropathy


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Dysarthria and Autistic behavior, related diseases and genetic alterations Neuroblastoma and Epileptic encephalopathy, related diseases and genetic alterations Myopathy and Hemolytic anemia, related diseases and genetic alterations Ptosis and Edema, related diseases and genetic alterations Cataract and Generalized muscle weakness, related diseases and genetic alterations Scoliosis and Mandibular prognathia, related diseases and genetic alterations