Frontal bossing, and Severe global developmental delay

Diseases related with Frontal bossing and Severe global developmental delay

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

Top matches:

Early infantile epileptic encephalopathy-49 is a severe autosomal recessive neurologic disorder characterized by onset of seizures in the neonatal period, global developmental delay with intellectual disability and lack of speech, hypotonia, spasticity, and coarse facial features. Some patients may have brain calcifications on imaging (summary by Han et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 49; EIEE49

SHORT STATURE-BRACHYDACTYLY-OBESITY-GLOBAL DEVELOPMENTAL DELAY SYNDROME Is also known as sbidds

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHORT STATURE-BRACHYDACTYLY-OBESITY-GLOBAL DEVELOPMENTAL DELAY SYNDROME

Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS; see this term), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD) (see this term).

NEONATAL ADRENOLEUKODYSTROPHY Is also known as nald

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEONATAL ADRENOLEUKODYSTROPHY

Other less relevant matches:

Severe achondroplasia-developmental delay-acanthosis nigricans syndrome is characterised by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3).

SEVERE ACHONDROPLASIA-DEVELOPMENTAL DELAY-ACANTHOSIS NIGRICANS SYNDROME Is also known as saddan|saddan dysplasia

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE ACHONDROPLASIA-DEVELOPMENTAL DELAY-ACANTHOSIS NIGRICANS SYNDROME

Molybdenum cofactor deficiency (MOCOD) is a rare autosomal recessive metabolic disorder characterized by onset in infancy of poor feeding, intractable seizures, and severe psychomotor retardation. Characteristic biochemical abnormalities include decreased serum uric acid and increased urine sulfite levels due to the combined enzymatic deficiency of xanthine dehydrogenase (XDH ) and sulfite oxidase (SUOX ), both of which use molybdenum as a cofactor. Most affected individuals die in early childhood (summary by Reiss, 2000; Reiss et al., 2011). Genetic Heterogeneity of Molybdenum Cofactor DeficiencySee also MOCOD, complementation group B (MOCODB ), caused by mutation in the MOCS2 gene (OMIM ) on chromosome 5q11; and MOCOD, complementation group C (MOCODC ), caused by mutation in the GPHN gene (OMIM ) on chromosome 14q24.

SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE A Is also known as sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase, combined deficiency of|combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type a|mocod type a

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE A

Rhizomelic chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. Biochemically, plasmalogen synthesis and phytanic acid alpha-oxidation are defective. Most patients die in the first decade of life. RCDP1 is the most frequent form of RCDP (summary by Wanders and Waterham, 2005).Individuals with RCDP1, carrying mutations in the PEX7 gene, have cells of peroxisome biogenesis disorder (PBD) complementation group 11 (CG11, equivalent to CGR). For information on the history of PBD complementation groups, see {214100}. Genetic Heterogeneity of Rhizomelic Chondrodysplasia PunctataRCDP2 (OMIM ) is caused by mutation in the gene encoding acyl-CoA:dihydroxyacetonephosphate acyltransferase (GNPAT ) on chromosome 1q42. RCDP3 (OMIM ) is caused by mutation in the gene encoding alkyldihydroxyacetonephosphate synthase (alkyl-DHAP synthase) (AGPS ) on chromosome 2q31. RCDP5 (OMIM ) is caused by mutation in the gene encoding peroxisomal biogenesis factor-5 (PEX5 ) on chromosome 12p13.Whereas RCDP1 is a peroxisomal biogenesis disorder (PBD), RCDP2 and RCDP3 are classified as single peroxisome enzyme deficiencies (Waterham and Ebberink, 2012).

RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1 Is also known as pbd9|chondrodystrophia calcificans punctata|chondrodysplasia punctata, rhizomelic form|peroxisome biogenesis disorder 9|cdpr

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1

Infantile hypotonia with psychomotor retardation and characteristic facies-2 is a severe autosomal recessive neurodevelopmental disorder with onset at birth or in early infancy. Affected individuals show severe global developmental delay with poor or absent speech and absent or limited ability to walk. Some patients may have seizures that can be controlled; brain structure is typically normal (summary by Shamseldin et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of infantile hypotonia with psychomotor retardation and characteristic facies, see IHPRF1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2; IHPRF2

Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy.

PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY Is also known as pseudoneonatal adrenoleukodystrophy|pseudo-neonatal adrenoleukodystrophy|pseudo-nald|pseudoadrenoleukodystrophy|straight-chain acyl-coa oxidase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY

15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features.

15Q13.3 MICRODELETION SYNDROME Is also known as del(15)(q13.3)|chromosome 15q13.3 microdeletion syndrome|monosomy 15q13.3

Related symptoms:

  • Seizures
  • Schizophrenia
  • Bipolar affective disorder


SOURCES: MESH MENDELIAN

More info about 15Q13.3 MICRODELETION SYNDROME

Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy.

COMBINED PITUITARY HORMONE DEFICIENCIES, GENETIC FORMS Is also known as multiple pituitary hormone deficiencies, genetic forms|familial congenital hypopituitarism

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about COMBINED PITUITARY HORMONE DEFICIENCIES, GENETIC FORMS

Top 5 symptoms//phenotypes associated to Frontal bossing and Severe global developmental delay

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Frontal bossing and Severe global developmental delay. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Strabismus Depressed nasal bridge Epicanthus Wide nasal bridge Growth delay Sensorineural hearing impairment Anteverted nares Hearing impairment Nystagmus Intellectual disability, severe Brain atrophy Short stature Hypoplasia of the corpus callosum Hyperreflexia Spasticity EEG abnormality Ptosis Osteopenia Optic atrophy Abnormality of metabolism/homeostasis Low-set ears High palate Spastic tetraplegia Muscular hypotonia Hydrocephalus Malar flattening Hypertonia Deeply set eye

Rare Symptoms - Less than 30% cases

Cataract Ventriculomegaly Macrocephaly High forehead Developmental regression Muscular hypotonia of the trunk Adrenal insufficiency Esotropia Wide anterior fontanel Midface retrusion Severe short stature Respiratory failure Peripheral demyelination Short philtrum Generalized-onset seizure Cerebral atrophy Rhizomelia Short nose Feeding difficulties Hypertelorism Polydactyly Scoliosis Abnormal facial shape Respiratory insufficiency Short neck Pulmonic stenosis Brachycephaly Holoprosencephaly Open mouth Concave nasal ridge Failure to thrive Myoclonus Intrauterine growth retardation Dystonia Absent speech Encephalopathy Long philtrum Prominent forehead Prominent nose Tetraplegia Constipation Profound global developmental delay Neonatal hypotonia Generalized tonic seizures Coronal cleft vertebrae Elevated hepatic transaminase Multiple epiphyseal dysplasia Flared metaphysis Appendicular hypotonia Profound static encephalopathy Delayed CNS myelination Babinski sign Hepatomegaly Myopia Sparse body hair Polysplenia Gait disturbance Facial hypotonia Dysphagia Epiphyseal stippling Severe failure to thrive Blindness Bilateral cleft palate Infantile muscular hypotonia Hip contracture Downslanted palpebral fissures Thin upper lip vermilion Joint laxity Prominent nasal bridge Broad forehead Poor speech Smooth philtrum Bulbous nose Inability to walk Posteriorly rotated ears Retinopathy Dyskinesia Small hand Global brain atrophy Tapered finger Sleep disturbance Triangular face Intellectual disability, profound Choreoathetosis Pregnancy exposure Severe muscular hypotonia Plagiocephaly Calcific stippling of infantile cartilaginous skeleton Tented upper lip vermilion Cachexia Failure to thrive in infancy Irritability No social interaction Neurological speech impairment Aspiration pneumonia Decreased testicular size Amenorrhea Depressed nasal ridge Aspiration Hoarse voice Hypogonadotrophic hypogonadism Optic nerve hypoplasia Delayed cranial suture closure Hypoplastic left heart Abnormality of digit Prolonged neonatal jaundice Absent septum pellucidum Hypopituitarism Severe postnatal growth retardation Short attention span Growth hormone deficiency Ectopic posterior pituitary Decreased cervical spine mobility Moon facies Abnormal prolactin level Pituitary dwarfism Aplasia/Hypoplasia of the breasts Septo-optic dysplasia Decreased circulating ACTH level Pituitary hypothyroidism Median cleft lip and palate Abnormality of secondary sexual hair Osteoporosis of vertebrae Anterior pituitary hypoplasia Absence of secondary sex characteristics Anterior pituitary agenesis Hypotension Macroglossia Abnormality of the cerebral white matter Hand polydactyly Abnormality of nervous system morphology Tapetoretinal degeneration CNS demyelination Decreased light- and dark-adapted electroretinogram amplitude Abnormality of visual evoked potentials Inverted nipples Abnormal electroretinogram Schizophrenia Intellectual disability, progressive Leukodystrophy Bilateral sensorineural hearing impairment Pigmentary retinopathy Hypodontia Retinal degeneration Diffuse hepatic steatosis Bipolar affective disorder Ascites Hypothyroidism Infertility Delayed puberty Abnormality of the eye Hypoglycemia Jaundice Polyhydramnios Hypogonadism Fatigue Agenesis of corpus callosum Pneumonia Delayed skeletal maturation Patent ductus arteriosus Epiphyseal dysplasia Edema Congenital contracture Increased urinary sulfite Spina bifida occulta Elevated long chain fatty acids Low-set, posteriorly rotated ears Abnormality of the liver Dolichocephaly Abnormality of movement Retinal dystrophy High, narrow palate Abnormality of retinal pigmentation Decreased liver function Bilateral single transverse palmar creases Abnormal palate morphology Abnormality of neuronal migration Primary adrenal insufficiency Polar cataract Congestive heart failure Frontal hirsutism Kyphosis Gastroesophageal reflux Skeletal dysplasia Craniosynostosis Platyspondyly Micromelia Otitis media High myopia Lumbar hyperlordosis Epidermal acanthosis Pulmonary arterial hypertension Exotropia Acanthosis nigricans Sleep apnea Visual impairment Infra-orbital crease Thoracic hypoplasia Delayed speech and language development Hyperactivity Macrotia Coarse facial features Anxiety Everted lower lip vermilion Dandy-Walker malformation Epileptic encephalopathy Cerebral calcification Hypotelorism Long eyelashes Thick upper lip vermilion Fusion of the left and right thalami Cryptorchidism Brachydactyly Pseudohypoparathyroidism Abnormality of the skeletal system Obesity Retrognathia Astigmatism Thin vermilion border Short foot Broad nasal tip Delayed myelination Short metacarpal Short palpebral fissure Laryngomalacia Short metatarsal Delayed ability to walk Underdeveloped supraorbital ridges Redundant skin Mesomelia Abnormality of epiphysis morphology Alopecia Decreased urinary sulfate Reduced xanthine dehydrogenase activity Increased urinary thiosulfate Decreased urinary urate Absent urinary urothione Aldehyde oxidase deficiency Micrognathia Cleft palate Pain Flexion contracture Atrial septal defect Abnormality of the dentition Hernia Upslanted palpebral fissure Sulfite oxidase deficiency Cerebral cortical atrophy Kyphoscoliosis Cleft lip Congenital cataract Dry skin Ichthyosis Flat face Polymicrogyria Pulmonary hypoplasia Short distal phalanx of finger Limitation of joint mobility Limb undergrowth Congenital diaphragmatic hernia Abnormality of the metaphysis Xanthine nephrolithiasis Xanthinuria Femoral bowing Full cheeks Tibial bowing Abnormality of the clavicle Megalencephaly Central apnea Cloverleaf skull Metaphyseal chondrodysplasia Fibular bowing Aplasia/Hypoplasia of the mandible Enlarged cerebellum Feeding difficulties in infancy Long face Thick vermilion border Gliosis Neuronal loss in central nervous system Increased urinary hypoxanthine Tetraparesis Progressive microcephaly Spastic tetraparesis Poor head control Hemiplegia Ectopia lentis Opisthotonus Axonal loss Lens luxation Myoclonic spasms Hypouricemia Abnormal muscle tone Increased urinary taurine Molybdenum cofactor deficiency Ectopic anterior pituitary gland


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Esotropia, related diseases and genetic alterations