Global developmental delay, and Low posterior hairline

Diseases related with Global developmental delay and Low posterior hairline

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

Top matches:

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Abnormal facial shape


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 91; MRX91

5p13 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes).

5P13 MICRODUPLICATION SYNDROME Is also known as dup(5)(p13)|trisomy 5p13

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about 5P13 MICRODUPLICATION SYNDROME

Other less relevant matches:

Growth delay due to insulin-like growth factor I deficiency is characterised by the association of intrauterine and postnatal growth retardation with sensorineural deafness and intellectual deficit.

GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR TYPE 1 DEFICIENCY Is also known as igf1 deficiency|primary insulin-like growth factor deficiency|growth retardation with sensorineural deafness and mental retardation|growth delay-deafness- intellectual disability syndrome|igf-1 deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR TYPE 1 DEFICIENCY

NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS Is also known as neurofibromatosis with noonan phenotype|noonan-neurofibromatosis syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS

Spondyloepimetaphyseal dysplasia, Geneviève type is a rare primary bone dysplasia characterized by severe developmental delay and skeletal dysplasia (including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses), as well as moderate to severe intellectual disability and facial dysmorphism, including prominent forehead, mild synophrys, depressed nasal bridge, prominent bulbous nasal tip and full lips.

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIÈVE TYPE Is also known as nans deficiency|semd, genevieve type|semdg|semd, geneviÈve type

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIÈVE TYPE

High match SIALURIA

Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood.

SIALURIA Is also known as sialuria, french type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about SIALURIA

Craniofacial dysplasia-osteopenia syndrome is a rare, genetic developmental defect during embryogenesis disorder characterized by craniofacial dysmorphism (incl. brachycephaly, prominent forehead, sparse lateral eyebrows, severe hypertelorism, upslanting palpebral fissures, epicanthal folds, protruding ears, broad nasal bridge, pointed nasal tip, flat philtrum, anteverted nostrils, large mouth, thin upper vermilion border, highly arched palate and mild micrognathia) associated with osteopenia leading to repeated long bone fractures, severe myopia, mild to moderate sensorineural or mixed hearing loss, enamel hypoplasia, sloping shoulders and mild intellectual disability.

CRANIOFACIAL DYSPLASIA-OSTEOPENIA SYNDROME Is also known as hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility|hamamy syndrome

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment
  • Cryptorchidism


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CRANIOFACIAL DYSPLASIA-OSTEOPENIA SYNDROME

Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Pachygyria - epilepsy - intellectual disability - dysmorphism (Fryns-Aftimos syndrome (FA); see this term) corresponds to the appearance of BWS in elderly patients.

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about BARAITSER-WINTER CEREBROFRONTOFACIAL SYNDROME

Ritscher-Schinzel syndrome-2 is an X-linked recessive syndromic form of intellectual disability associated with posterior fossa defects, cardiac malformations, and minor abnormalities of the face and distal extremities (summary by Kolanczyk et al., 2015).For a discussion of genetic heterogeneity of Ritscher-Schinzel syndrome, see RTSC1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about RITSCHER-SCHINZEL SYNDROME 2; RTSC2

Top 5 symptoms//phenotypes associated to Global developmental delay and Low posterior hairline

Symptoms // Phenotype % cases
Hypertelorism Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Epicanthus

Uncommon Symptoms - Between 30% and 50% cases

Clinodactyly High palate Scoliosis Microcephaly Low-set ears Micrognathia Wide nasal bridge Macrocephaly Short stature Upslanted palpebral fissure Atrial septal defect Growth delay Short neck Cryptorchidism Prominent forehead Ptosis Webbed neck Syndactyly Brachycephaly Strabismus Muscular hypotonia Intellectual disability, mild Long philtrum Coarse facial features

Rare Symptoms - Less than 30% cases

Relative macrocephaly Bulbous nose Failure to thrive Synophrys Hearing impairment Inguinal hernia Small for gestational age Wide nose Developmental regression Broad forehead Short philtrum Sensorineural hearing impairment Smooth philtrum Myopia Specific learning disability Hyperactivity Osteopenia Attention deficit hyperactivity disorder Cafe-au-lait spot Low anterior hairline Wide mouth Downslanted palpebral fissures Skeletal dysplasia Abnormality of the skeletal system Cognitive impairment Craniosynostosis Broad neck Telecanthus Abnormality of metabolism/homeostasis Sparse hair Absent speech Ataxia Frontal bossing Cerebellar hypoplasia Cubitus valgus Hirsutism Short nose Upper airway obstruction Dysostosis multiplex Intestinal malrotation Episodic abdominal pain Periorbital fullness Protuberant abdomen Hypoplastic nipples Thoracic hypoplasia 2-3 toe syndactyly Prolonged partial thromboplastin time Transient ischemic attack Broad nasal tip Short distal phalanx of finger Abnormality of the mitochondrion Pulmonary hypoplasia Prolonged prothrombin time Long hallux Poor speech Spinal deformities Expressive language delay Dysphagia Abnormal cardiac septum morphology Camptodactyly Cholelithiasis Sleep apnea Hyperkinesis Elevated hepatic transaminase Long fibula Metaphyseal striations Posterior scalloping of vertebral bodies Small basal ganglia Pain Hepatomegaly Splenomegaly Abdominal pain Hepatosplenomegaly Protruding tongue Thin upper lip vermilion Broad hallux Pectus excavatum Overlapping toe Wide anterior fontanel Joint hypermobility Dandy-Walker malformation High, narrow palate Macroglossia Memory impairment Hoarse voice Generalized hirsutism Convex nasal ridge Renal agenesis Anteverted nares Tapered finger Patent ductus arteriosus Pointed chin Microcornea Duplication of thumb phalanx Full cheeks Macrogyria Subcortical cerebral atrophy Abnormality of the upper urinary tract Optic nerve coloboma Echolalia Prominent nose Pachygyria Large fontanelles Lissencephaly Carpal bone hypoplasia Mutism Trigonocephaly Hydroureter Delayed cranial suture closure Aphasia Dysphasia Long nose Heterochromia iridis Long palpebral fissure Prominent metopic ridge Depressed nasal tip Short columella Highly arched eyebrow Iris coloboma Ventricular septal defect Euryblepharon Palpebral edema Hypodontia Dental malocclusion Hip dysplasia High myopia Mitral regurgitation Hypoplasia of dental enamel Preauricular skin tag Microcytic anemia Hypoparathyroidism Down-sloping shoulders Sparse lateral eyebrow Moderate global developmental delay Polymicrogyria Long toe Hypochromic anemia Short 2nd finger Feeding difficulties Osteochondrosis Cerebral cortical atrophy Retrognathia Cerebral cortical hemiatrophy Hydronephrosis Joint stiffness Retinoschisis Thin vermilion border Narrow iliac wings Pectus excavatum of inferior sternum Irregular epiphyses Long fingers Blepharophimosis Astigmatism Arachnodactyly Sleep disturbance Narrow forehead Hypotelorism Short palpebral fissure Stereotypy Exotropia Obsessive-compulsive behavior Large hands Overweight Agenesis of corpus callosum Turricephaly Long foot Motor delay Intrauterine growth retardation Behavioral abnormality Delayed skeletal maturation Clinodactyly of the 5th finger Severe short stature Osteoporosis Hypogonadism Hypoglycemia Postnatal growth retardation Proptosis Anteverted ears Delayed eruption of teeth Encephalopathy Obesity Severe global developmental delay Small hand Short foot Severe muscular hypotonia Short 5th finger Macrodontia Spasticity Hyperreflexia Cerebellar atrophy Hypertonia Dystonia Mandibular prognathia Thick hair Deeply set eye Muscular hypotonia of the trunk Hypermetropia Dysmetria Inability to walk Epileptic encephalopathy Apraxia Narrow palpebral fissure Oculomotor apraxia Poor head control Abnormality of finger Mild microcephaly Single transverse palmar crease Bilateral sensorineural hearing impairment Small epiphyses Platyspondyly Prominent nasolabial fold Optic nerve glioma Inguinal freckling Nystagmus Ventriculomegaly Hypoplasia of the corpus callosum Hydrocephalus Intellectual disability, severe Cerebral atrophy Joint laxity Abnormality of the pinna Confusion Axillary freckling Flat face Thick vermilion border Abnormality of the skin Thick lower lip vermilion Infantile muscular hypotonia Metaphyseal irregularity Spondyloepiphyseal dysplasia Flared metaphysis Short femoral neck Irregular vertebral endplates Flat acetabular roof Spondyloepimetaphyseal dysplasia Superior pectus carinatum Lisch nodules Decreased body weight Congenital bilateral ptosis Insulin resistance Radial deviation of finger Congenital sensorineural hearing impairment Truncal obesity Severe intrauterine growth retardation Abnormality of the mouth Severe postnatal growth retardation Short attention span Concave nasal ridge Neonatal hyperbilirubinemia Prelingual sensorineural hearing impairment Small placenta Muscle weakness Secundum atrial septal defect Delayed speech and language development Depressed nasal bridge Malar flattening Midface retrusion Posteriorly rotated ears Leukemia Pulmonic stenosis Wide intermamillary distance Neurofibromas Freckling Multiple cafe-au-lait spots Acute lymphoblastic leukemia Arachnoid cyst


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Short palm, related diseases and genetic alterations Intellectual disability, severe and Finger syndactyly, related diseases and genetic alterations Fever and Cerebral calcification, related diseases and genetic alterations Fever and Micropenis, related diseases and genetic alterations Lymphoma and Bronchiectasis, related diseases and genetic alterations Lymphoma and Hemolytic anemia, related diseases and genetic alterations