Global developmental delay, and Convex nasal ridge

Diseases related with Global developmental delay and Convex nasal ridge

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

Top matches:

Seckel syndrome is a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly with mental retardation, and a characteristic 'bird-headed' facial appearance (summary by Shanske et al., 1997).For a discussion of genetic heterogeneity of Seckel syndrome, see SCKL1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 8; SCKL8

MISSLA is an autosomal recessive disorder characterized by intrauterine growth retardation, microcephaly, variable short stature, and limb abnormalities mainly affecting the upper limb and radial ray. Affected individuals typically have mild intellectual disability, but may have normal development (summary by Reynolds et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES; MISSLA

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about CEREBROOCULOFACIOSKELETAL SYNDROME 2; COFS2

Other less relevant matches:

High match SECKEL SYNDROME

Seckel syndrome is a type of microcephalic primordial dwarfism that is characterized by a proportionate dwarfism of prenatal onset, a severe microcephaly, a typical dysmorphic face (bird-like), and mild to severe intellectual disability.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Micrognathia


SOURCES: ORPHANET MENDELIAN

More info about SECKEL SYNDROME

15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism.

15Q14 MICRODELETION SYNDROME Is also known as del(15)(q14)|monosomy 15q14

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about 15Q14 MICRODELETION SYNDROME

High match BRESEK SYNDROME

X-linked mental retardation, Reish type is characterised by Brain anomalies, severe mental Retardation, Ectodermal dysplasia, Skeletal deformities (vertebral anomalies, scoliosis, polydactyly), Ear/eye anomalies (maldevelopment, small optic nerves, low set and large ears with hearing loss) and Kidney dysplasia/hypoplasia (giving the acronym BRESEK syndrome).

BRESEK SYNDROME Is also known as bresheck syndrome

Related symptoms:

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


SOURCES: MESH ORPHANET MENDELIAN

More info about BRESEK SYNDROME

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 9; SCKL9

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 4; AGS4

Phosphoribosylpyrophosphate synthetase I superactivity is an X-linked inborn error of metabolism in which increased enzyme activity is associated with hyperuricemia and gout. Some affected individuals have neurodevelopmental abnormalities, particularly sensorineural deafness (Becker et al., 1988; Roessler et al., 1993).Although different kinetic defects affecting the PRPS1 enzyme have been identified in this disorder, the common pathway involves increased synthesis of phosphoribosylpyrophosphate (PRPP), which leads to increased uric acid and purine production (Becker, 2001).

PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY Is also known as prps1 superactivity

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY

Rubinstein-Taybi syndrome (RSTS) is a multiple congenital anomaly syndrome characterized by mental retardation, postnatal growth deficiency, microcephaly, broad thumbs and halluces, and dysmorphic facial features. The classic facial appearance is striking, with highly arched eyebrows, long eyelashes, downslanting palpebral fissures, broad nasal bridge, beaked nose with the nasal septum, highly arched palate, mild micrognathia, and characteristic grimacing or abnormal smile (Rubinstein and Taybi, 1963; review by Hennekam, 2006).About 50 to 70% of patients have RSTS1 due to mutation in the CREBBP gene (OMIM ). RSTS2 is much less common, and about 3% of patients have mutations in the EP300 gene. RSTS2 appears to be associated with a milder phenotype than RSTS1. Patients with RSTS2 have less severe facial dysmorphism and better cognitive function, but may have more severe microcephaly and malformation of facial bone structures compared to those with RSTS1 (Bartsch et al., 2010).For a discussion of genetic heterogeneity of Rubinstein-Taybi syndrome, see RSTS1 (OMIM ).

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about RUBINSTEIN-TAYBI SYNDROME DUE TO EP300 HAPLOINSUFFICIENCY

Top 5 symptoms//phenotypes associated to Global developmental delay and Convex nasal ridge

Symptoms // Phenotype % cases
Microcephaly Very Common - Between 80% and 100% cases
Intrauterine growth retardation Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Micrognathia

Uncommon Symptoms - Between 30% and 50% cases

Low-set ears Scoliosis Hearing impairment Generalized hypotonia Delayed skeletal maturation

Rare Symptoms - Less than 30% cases

Downslanted palpebral fissures Narrow face Ventricular septal defect Seizures Cleft palate Delayed speech and language development Motor delay Long face Atrial septal defect Immunodeficiency Autism Abnormal cardiac septum morphology Highly arched eyebrow Cryptorchidism Hydrocephalus Protruding ear Ventriculomegaly Hypertonia Pneumonia Cognitive impairment Failure to thrive Deeply set eye Intellectual disability, mild Clinodactyly of the 5th finger Cortical gyral simplification Kyphoscoliosis Microphthalmia Abnormal facial shape Sensorineural hearing impairment Leukopenia Atrophy/Degeneration affecting the brainstem Facial paralysis Lymphocytosis CSF lymphocytic pleiocytosis Ataxia Strabismus Hypertension Muscular hypotonia Bradycardia Epicanthus Peripheral neuropathy Cardiomyopathy Renal insufficiency Recurrent infections Arrhythmia Areflexia Muscle stiffness Progressive microcephaly Leukodystrophy Cerebral atrophy Spasticity Anemia Feeding difficulties Hepatomegaly Tremor Respiratory insufficiency Cerebellar atrophy Dystonia Splenomegaly Thrombocytopenia Diabetes mellitus Encephalopathy Severe short stature Hepatosplenomegaly Elevated hepatic transaminase Apnea Paralysis Severe global developmental delay Pruritus Cerebral calcification Pancytopenia Prominent forehead Abnormality of the nervous system Hyperactivity Broad thumb Postnatal growth retardation Autistic behavior Carious teeth Genu valgum Hirsutism Premature birth Intestinal malrotation Dental malocclusion Prominent nose Long eyelashes Syndactyly Narrow palate Delayed gross motor development Overlapping toe Broad hallux Long nose Low hanging columella Preeclampsia Overbite Pes valgus Mild myopia Retrognathia Myopia Arthritis Hypotelorism Chronic lung disease Wide mouth Neurological speech impairment Hypermetropia Abnormality of eye movement Dysmetria Peripheral axonal neuropathy Polyneuropathy Triangular face Hyperuricemia Wide nasal bridge Arnold-Chiari type I malformation Gout High-frequency hearing impairment Abnormal aortic morphology Hyperuricosuria Increased urinary hypoxanthine Excessive purine production Abnormality of skeletal muscles Uric acid nephrolithiasis High palate Pulmonary artery hypoplasia Multicystic kidney dysplasia Recurrent lower respiratory tract infections Long philtrum Patellar aplasia Dislocated radial head Mesomelia Radioulnar synostosis Hypoplasia of the radius Finger clinodactyly Abnormality of the ribs Abnormality of the dentition Kyphosis Short metacarpal Abnormality of earlobe Inguinal hernia Posteriorly rotated ears Upslanted palpebral fissure High forehead Cleft lip Intellectual disability, moderate Low-set, posteriorly rotated ears Short philtrum Prominent nasal bridge Absent earlobe Mild global developmental delay Oral cleft Flexion contracture Camptodactyly of finger Congenital cataract Single transverse palmar crease Interphalangeal joint contracture of finger Cutaneous photosensitivity Scrotal hypoplasia Rocker bottom foot Large beaked nose Micropenis Glaucoma Prematurely aged appearance Craniosynostosis Joint hyperflexibility Hip dysplasia Sparse scalp hair Cataract Abnormality of dental enamel Sandal gap Reduced number of teeth Cachexia Cone-shaped epiphysis Smooth philtrum Clinodactyly Scaphocephaly Small for gestational age Hypoplasia of the bladder Ectopic kidney Talipes equinovarus Paraplegia Respiratory distress Hernia Recurrent respiratory infections Respiratory failure Polyhydramnios Asthma Optic nerve hypoplasia Ambiguous genitalia Decreased fetal movement Congenital diaphragmatic hernia Hypertrichosis Abnormal lung morphology Pachygyria Recurrent urinary tract infections Sparse hair Clitoral hypertrophy Abnormality of brain morphology Plagiocephaly Bulbous nose Intellectual disability, severe Everted lower lip vermilion Narrow forehead Pointed chin Tented upper lip vermilion Laryngomalacia Acne Biparietal narrowing Everted upper lip vermilion Brachydactyly Alopecia Hemivertebrae Spinal cord compression Hypotrichosis Ichthyosis Iris coloboma Vesicoureteral reflux Decreased testicular size Postaxial hand polydactyly Renal hypoplasia Aganglionic megacolon Renal dysplasia Posterior helix pit


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