Delayed speech and language development, and Sparse and thin eyebrow

Diseases related with Delayed speech and language development and Sparse and thin eyebrow

In the following list you will find some of the most common rare diseases related to Delayed speech and language development and Sparse and thin eyebrow that can help you solving undiagnosed cases.


Top matches:

Medium match CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im; CDG1M

gene led to a 96 to 98% reduction in DK activity.

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im; CDG1M Is also known as cdg im;cdgim, dolichol kinase deficiency, dk1 deficiency;cdg syndrome type im; cdg-im; cdg1m; carbohydrate deficient glycoprotein syndrome type im; congenital disorder of glycosylation type 1m; congenital disorder of glycosylation type im; dolichol kinase deficiency; hypotonia and ichthyosis due to dolichol phosphate deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET UMLS MESH OMIM MONDO SCTID GARD

More info about CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im; CDG1M

Medium match CHROMOSOME 17q12 DELETION SYNDROME

17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity onset diabetes of the young type 5, and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Müllerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transient hypercalcaemia have also been reported.

CHROMOSOME 17q12 DELETION SYNDROME Is also known as ;del(17)(q12); monosomy 17q12

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: UMLS DOID ORPHANET MONDO GARD OMIM

More info about CHROMOSOME 17q12 DELETION SYNDROME

Medium match CHROMOSOME 17q11.2 DELETION SYNDROME, 1.4-MB

Approximately 5 to 20% of all patients with neurofibromatosis type I (OMIM ) carry a heterozygous deletion of approximately 1.4 Mb involving the NF1 gene and contiguous genes lying in its flanking regions (Riva et al., 2000; Jenne et al., 2001), which is caused by nonallelic homologous recombination of NF1 repeats A and C (Dorschner et al., 2000). The 'NF1 microdeletion syndrome' is often characterized by a more severe phenotype than that observed in the majority of NF1 patients. In particular, patients with NF1 microdeletion often show variable facial dysmorphism, mental retardation, developmental delay, an excessive number of early-onset neurofibromas (Venturin et al., 2004), and an increased risk for malignant peripheral nerve sheath tumors (De Raedt et al., 2003).

CHROMOSOME 17q11.2 DELETION SYNDROME, 1.4-MB Is also known as neurofibromatosis 1 microdeletion syndrome, nf1 microdeletion syndrome, van asperen syndrome;dup(17)(q11.2); grisart-destrée syndrome; trisomy 17q11.2

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: GARD ORPHANET DOID OMIM MONDO

More info about CHROMOSOME 17q11.2 DELETION SYNDROME, 1.4-MB

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Other less relevant matches:

Medium match KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS

. An autosomal recessive mode of inheritance seems most likely.

KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS Is also known as blepharophimosis-ptosis-intellectual disability syndrome;bpids;

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: UMLS ORPHANET SCTID MESH MONDO GARD OMIM

More info about KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS

Medium match WITTEVEEN-KOLK SYNDROME; WITKOS

15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies.

WITTEVEEN-KOLK SYNDROME; WITKOS Is also known as ;del(15)(q24); monosomy 15q24

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: OMIM UMLS ORPHANET SCTID MESH DOID MONDO GARD

More info about WITTEVEEN-KOLK SYNDROME; WITKOS

Medium match CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME; CFSMR

Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterized by facial dysmorphism, intellectual deficit and costovertebral abnormalities.

CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME; CFSMR Is also known as cerebrofaciothoracic dysplasia;pascual-castroviejo syndrome type 1

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: MONDO SCTID OMIM MESH GARD UMLS ORPHANET

More info about CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME; CFSMR

Medium match NOONAN SYNDROME 9; NS9

Noonan syndrome is an autosomal dominant disorder characterized by short stature, craniofacial dysmorphism, short and/or webbed neck, cardiac abnormalities, cryptorchidism, and coagulation defects (summary by Yamamoto et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ).

Related symptoms:

  • Autosomal dominant inheritance
  • Global developmental delay
  • Short stature
  • Pica
  • Hypertelorism


SOURCES: MONDO OMIM DOID UMLS

More info about NOONAN SYNDROME 9; NS9

Medium match CEREBELLOFACIODENTAL SYNDROME; CFDS

Cerebellofaciodental syndrome is an autosomal recessive neurodevelopmental disorder characterized by delayed development, intellectual disability, abnormal facial and dental findings, and cerebellar hypoplasia (summary by Borck et al., 2015).

CEREBELLOFACIODENTAL SYNDROME; CFDS Is also known as cerebellar-facial-dental syndrome;cerebellofaciodental syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: EFO OMIM UMLS MONDO ORPHANET

More info about CEREBELLOFACIODENTAL SYNDROME; CFDS

Medium match DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS; DBA15

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Pica


SOURCES: MONDO OMIM UMLS

More info about DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS; DBA15

Medium match SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Ptosis


SOURCES: OMIM UMLS MONDO

More info about SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Sparse and thin eyebrow

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Short stature Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Pica Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Delayed speech and language development and Sparse and thin eyebrow. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Micrognathia

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly Ptosis Downslanted palpebral fissures Epicanthus Scoliosis Hearing impairment Autosomal dominant inheritance Seizures Autosomal recessive inheritance Hypertelorism Generalized hypotonia Muscular hypotonia Growth delay Hypoplasia of the corpus callosum Strabismus Motor delay Cryptorchidism Depressed nasal bridge Low-set ears Posteriorly rotated ears High palate Sparse eyebrow Anteverted nares Feeding difficulties Short neck Malar flattening Highly arched eyebrow Thin vermilion border Retrognathia Upslanted palpebral fissure High forehead Recurrent infections Facial asymmetry Iris coloboma Postnatal growth retardation Coloboma Absent speech Hernia Nystagmus Ventriculomegaly Fine hair Sparse eyelashes Sparse hair Short nose Attention deficit hyperactivity disorder

Rare Symptoms - Less than 30% cases


Intellectual disability, severe Joint hypermobility Specific learning disability Joint hyperflexibility Tall stature Neoplasm Macrocephaly Intellectual disability, mild Thick nasal alae Abnormality of cardiovascular system morphology Pectus excavatum Cafe-au-lait spot Broad neck Long foot Thin upper lip vermilion Sporadic Pes cavus Growth hormone deficiency Atrial septal defect Long face Tapered finger Small for gestational age Polyhydramnios Inguinal hernia Wide nasal bridge Brachydactyly Long palm Laryngeal stridor Congenital diaphragmatic hernia Cleft palate High, narrow palate Single transverse palmar crease Arachnodactyly Smooth philtrum Respiratory distress Abnormality of the kidney Wide mouth Telecanthus Feeding difficulties in infancy Muscular hypotonia of the trunk Talipes equinovarus Midface retrusion Talipes Webbed neck Infantile onset Anemia Wide nose Narrow mouth Brachycephaly Pes planus Narrow face Autism Cognitive impairment Hypermetropia Small nail Short palm Dilatation Cerebral cortical atrophy Failure to thrive Shawl scrotum Frontal bossing Protruding ear Hydronephrosis Mandibular prognathia Elevated hepatic transaminase Abnormality of upper lip Hyperkeratosis Patent ductus arteriosus Ureteral atresia Splenomegaly Cardiomyopathy Arrhythmia Congestive heart failure Abnormality of the proximal phalanx of the thumb Medial flaring of the eyebrow Gastrointestinal atresia Conspicuously happy disposition Large fleshy ears Tremor Anxiety Hyporeflexia Cleft lip Hypoplasia of the maxilla Unsteady gait Thick eyebrow Flat face Hepatomegaly Narrow chest Cleft upper lip Hypothyroidism Synophrys Pectus carinatum Nephrotic syndrome Craniosynostosis Low-set, posteriorly rotated ears Dysplastic corpus callosum Neonatal hypotonia Flared nostrils Thick hair Anisocoria Bilateral single transverse palmar creases Abnormality of the voice Nasal speech Sandal gap Hoarse voice Pointed chin Microretrognathia Short thumb Radial deviation of finger Open mouth Thick lower lip vermilion Underdeveloped nasal alae Delayed myelination Sleep disturbance Small hand Alopecia Widely spaced teeth Abnormality of the thorax Toe clinodactyly High anterior hairline Deep plantar creases Unilateral cryptorchidism Wide intermamillary distance Intestinal atresia Wide nasal base Abnormality of nervous system morphology Microphallus Insomnia Abnormality of the outer ear Overlapping fingers Thick upper lip vermilion Abnormality of digit Slender finger Abnormality of the vasculature Cupped ear Proximal placement of thumb Vesicoureteral reflux Narrow forehead Spontaneous abortion Poor speech Hypoplasia of the pons Taurodontia Slender long bone Stridor Laryngomalacia Dental malocclusion Cerebellar hypoplasia Sensorineural hearing impairment Hyperkeratosis pilaris Mild short stature Curly hair Coarctation of aorta Myopathy Pulmonic stenosis Macrodontia of permanent maxillary central incisor Microtia Erythema Osteopenia Anisopoikilocytosis Profound global developmental delay Poikilocytosis Hypopigmented skin patches Hypopigmentation of the skin Short distal phalanx of finger Proptosis Bifid uvula Severe short stature Mandibulofacial dysostosis Granulocytopenia Severe sensorineural hearing impairment Mixed hearing impairment Macrocytic anemia Submucous cleft hard palate Abnormal cardiac septum morphology Exodeviation Abnormality of the ribs Low anterior hairline Vertebral segmentation defect Coarse hair Sacral dimple Hemivertebrae Abnormal vertebral morphology Long eyelashes Gingival overgrowth Vertebral fusion Cerebellar vermis hypoplasia Intention tremor Autistic behavior Decreased fetal movement Low posterior hairline Postaxial hand polydactyly Renal agenesis Supernumerary nipple Overlapping toe Microdontia of primary teeth Conical tooth Bifid ribs Bull's eye maculopathy Poliosis Vaginal fistula Hyperextensibility of the finger joints Broad philtrum Thoracic dysplasia Large for gestational age Rib fusion Self-mutilation Rectovaginal fistula Abnormal hair pattern Beaking of vertebral bodies Neurodevelopmental delay Sprengel anomaly Polymicrogyria Prominent nasal bridge Toe syndactyly Focal T2 hyperintense basal ganglia lesion Myopia Renal hypoplasia Neurofibrosarcoma Deviated nasal septum Spinal neurofibromas Inguinal freckling Plexiform neurofibroma Tics Subcutaneous neurofibromas Optic nerve glioma Axillary freckling Lisch nodules Overbite Bifid nose Optic atrophy Short foot Bone cyst Gastroesophageal reflux Congenital hepatic fibrosis Dyspnea Hypoketotic hypoglycemia Ketotic hypoglycemia Abnormal isoelectric focusing of serum transferrin Conductive hearing impairment Polydactyly Nail dystrophy Respiratory failure Prominent forehead Renal insufficiency Cerebral atrophy Diabetes mellitus Constipation Clinodactyly of the 5th finger Oligohydramnios Bilateral sensorineural hearing impairment Hyperlordosis Nevus Coarse facial features Long fingers Ovarian cyst Upper limb undergrowth Abnormality of the skeletal system Aplasia of the uterus Hyperconvex nail Unilateral renal agenesis Long toe Spasticity Ureterocele Urethral stenosis Subcortical cerebral atrophy Hypoplasia of the bladder Aplasia of the vagina Abnormal heart morphology Language impairment Stage 5 chronic kidney disease Abnormality of dental enamel Alopecia of scalp Macroorchidism Neurofibromas Fibroma Large hands Large fontanelles Overgrowth Focal seizures with impairment of consciousness or awareness Hypoplasia of dental enamel Hypertrichosis Recurrent urinary tract infections Horizontal nystagmus Multicystic kidney dysplasia Renal hypoplasia/aplasia Schizophrenia Adactyly Abnormality of the nervous system Severe global developmental delay Death in infancy Microphthalmia Long philtrum Hypertonia Dilated cardiomyopathy Dry skin Intrauterine growth retardation Slanting of the palpebral fissure Hypospadias Tetraplegia Muscle flaccidity Recurrent pneumonia Narrow palm Chorioretinal dystrophy Round ear Thin eyebrow Ichthyosis Obesity Auricular tag Joint laxity Broad forehead Deeply set eye Pancreatic aplasia Developmental regression Camptodactyly of finger Aggressive behavior Hyperactivity Myalgia Macrotia Hypogonadism Abnormality of the genital system Clinodactyly Micropenis Hypoglycemia Immunodeficiency Broad eyebrow Choroideremia Blepharophimosis Aspiration Thin skin Short palpebral fissure Optic disc pallor Microdontia Postaxial polydactyly Microcornea Severe muscular hypotonia Wide anterior fontanel Lipoatrophy Abnormality of coagulation Epileptic spasms Carious teeth Myocarditis Aplasia/Hypoplasia of the nipples Short philtrum Inflammatory abnormality of the skin Postnatal microcephaly Bilateral conductive hearing impairment Absent eyebrow Diastema Hypocholesterolemia Abnormality of the optic nerve Abnormal lip morphology Ovoid vertebral bodies Bell-shaped thorax Hypsarrhythmia Preauricular skin tag Metatarsus adductus Phimosis Clitoral hypertrophy Neonatal respiratory distress Flat occiput Poor suck Narrow palate Spotty hypopigmentation



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

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