Delayed speech and language development, and Brachycephaly

Diseases related with Delayed speech and language development and Brachycephaly

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


Top matches:

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 39; MRD39

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Feeding difficulties


SOURCES: OMIM MONDO DOID UMLS

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 39; MRD39

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 29; MRD29

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Hypertelorism
  • Motor delay


SOURCES: GARD MONDO OMIM UMLS DOID

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 29; MRD29

Medium match KLEEFSTRA SYNDROME 2; KLEFS2

Kleefstra syndrome-2 is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, variable intellectual disability, and mild dysmorphic features (summary by Koemans et al., 2017).For a discussion of genetic heterogeneity of Kleefstra syndrome, see KLEFS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM

More info about KLEEFSTRA SYNDROME 2; KLEFS2

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Other less relevant matches:

Medium match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13; MRT13

Related symptoms:

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


SOURCES: OMIM UMLS MONDO MESH

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13; MRT13

Medium match MICROPHTHALMIA, SYNDROMIC 12; MCOPS12

MICROPHTHALMIA, SYNDROMIC 12; MCOPS12 Is also known as microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects

Related symptoms:

  • Autosomal recessive inheritance
  • Autosomal dominant inheritance
  • Intellectual disability
  • Generalized hypotonia
  • Micrognathia


SOURCES: MONDO GARD OMIM UMLS

More info about MICROPHTHALMIA, SYNDROMIC 12; MCOPS12

Medium match MENTAL RETARDATION, X-LINKED 1; MRX1

Impaired mental functioning occurs as an isolated feature or as part of many syndromes listed in the X-linked catalog. Mental retardation that is not associated with other distinguishing features is referred to as 'nonspecific.' ClassificationOpitz and Sutherland (1984) reported on a conference in which fragile X mental retardation and X-linked mental retardation of numerous other types were discussed. The report contains a rather comprehensive discussion by Opitz of the nosology of X-linked mental retardation. Mulley et al. (1992) reviewed nomenclature guidelines for X-linked mental retardation.Raymond (2006) reviewed the diagnosis and classification of X-linked mental retardation and discussed the phenotypes associated with genes causing syndromic and nonsyndromic mental retardation.

MENTAL RETARDATION, X-LINKED 1; MRX1 Is also known as mrx, mental retardation, x-linked 18;mrx18, mental retardation, x-linked 78;mrx78;x-linked intellectual disability, atkin type

Related symptoms:

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


SOURCES: OMIM ORPHANET

More info about MENTAL RETARDATION, X-LINKED 1; MRX1

Medium match 6Q16 DELETION SYNDROME

Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay.

6Q16 DELETION SYNDROME Is also known as del(6)(q16); monosomy 6q16; prader-willi-like syndrome due to deletion 6q16

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET

More info about 6Q16 DELETION SYNDROME

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23

MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23 Is also known as ;

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly


SOURCES: ORPHANET OMIM DOID UMLS MONDO

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23

Medium match DESANTO-SHINAWI SYNDROME; DESSH

DeSanto-Shinawi syndrome is a rare neurodevelopmental disorder characterized by global developmental delay apparent in infancy or early childhood and associated with characteristic dysmorphic facial features, such as broad forehead, depressed nasal bridge with bulbous nasal tip, and deep-set eyes. Most patients also have gastrointestinal and mild ocular abnormalities, as well as behavioral problems (summary by DeSanto et al., 2015).

DESANTO-SHINAWI SYNDROME; DESSH Is also known as developmental delay, behavioral abnormalities, facial dysmorphism, and ocular abnormalities;

Related symptoms:

  • Autosomal dominant inheritance
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET UMLS

More info about DESANTO-SHINAWI SYNDROME; DESSH

Medium match 2Q23.1 MICRODELETION SYNDROME

The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures.

2Q23.1 MICRODELETION SYNDROME Is also known as del(2)(q23.1); monosomy 2q23.1; pseudo-angelman syndrome

Related symptoms:

  • Seizures
  • Short stature
  • Microcephaly
  • Ataxia
  • Growth delay


SOURCES: ORPHANET

More info about 2Q23.1 MICRODELETION SYNDROME

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Brachycephaly

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Synophrys

Uncommon Symptoms - Between 30% and 50% cases


Hypertelorism Autosomal dominant inheritance Strabismus Abnormal facial shape Coarse facial features Short stature Hyperactivity Aggressive behavior Autism Obesity Myopia Growth delay Broad forehead Downturned corners of mouth Everted lower lip vermilion Wide nasal bridge Cryptorchidism Neonatal hypotonia Intellectual disability, severe Autistic behavior Depressed nasal bridge Thin upper lip vermilion

Rare Symptoms - Less than 30% cases


Sleep disturbance Hypoplasia of the corpus callosum Poor speech Constipation Full cheeks Smooth philtrum Micrognathia Macrocephaly Round face Anteverted nares Macrotia Postnatal microcephaly Low anterior hairline Polyphagia Slender finger Thick eyebrow Infantile onset Dental crowding Feeding difficulties Muscular hypotonia Motor delay Clinodactyly of the 5th finger Low-set ears High palate Absent speech EEG abnormality Short neck Short palm Attention deficit hyperactivity disorder Bulbous nose Midface retrusion Autosomal recessive inheritance Mild microcephaly Broad nasal tip Upslanted palpebral fissure Kyphosis Behavioral abnormality Scoliosis Astigmatism Prominent nasal bridge Narrow nose Misalignment of teeth Microretrognathia Abnormality of the skeletal system Short foot Long philtrum Tapered finger Hypospadias Hyperlordosis Highly arched eyebrow Drooling Ataxia Macrodontia Self-injurious behavior Tented upper lip vermilion Sandal gap Stereotypy Generalized hirsutism Open mouth Hip dysplasia Hypoplasia of penis Malar flattening Inverted nipples Obsessive-compulsive behavior Agitation Hirsutism Deeply set eye Anxiety Abnormality of the pinna Prominent forehead Posteriorly rotated ears Sensorineural hearing impairment Hearing impairment Impaired mastication Abnormality of cardiovascular system morphology Hernia Epicanthus Abnormality of the cerebral white matter Horizontal eyebrow Unilateral cleft lip Bruxism Overweight Truncal obesity Progressive microcephaly Hypotelorism Febrile seizures Cleft lip Cleft palate Cleft upper lip Developmental regression Short philtrum Pointed chin Narrow palate Long face Downslanted palpebral fissures Ptosis Wide mouth Abnormality of the cerebellar vermis Ventricular septal defect Nystagmus Hypoplastic left atrium Maxillary lateral incisor microdontia Macroorchidism Prominent supraorbital ridges X-linked dominant inheritance Thick vermilion border Hypermetropia X-linked recessive inheritance Abnormality of the dentition Bicornuate uterus Microphthalmia Anophthalmia Spastic tetraparesis Tetraparesis Short palpebral fissure Congenital diaphragmatic hernia Pulmonary hypoplasia Sparse hair Muscular hypotonia of the trunk Retrognathia Paroxysmal bursts of laughter



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