Brachydactyly, and Autism

Diseases related with Brachydactyly and Autism

In the following list you will find some of the most common rare diseases related to Brachydactyly and Autism that can help you solving undiagnosed cases.


Top matches:

Medium match CRANIOSYNOSTOSIS 3; CRS3


Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by Fitzpatrick, 2013). Craniosynostosis-3 includes coronal, sagittal, and multisuture forms (Sharma et al., 2013).For discussion of genetic heterogeneity of craniosynostosis, see CRS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Strabismus
  • Ptosis
  • Brachydactyly
  • Syndactyly


SOURCES: OMIM MENDELIAN

More info about CRANIOSYNOSTOSIS 3; CRS3

Medium match INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD; IDDGIP


IDDGIP is an autosomal dominant syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with speech delay, and behavioral abnormalities. Most patients have variable additional features, including feeding and gastrointestinal difficulties, high pain threshold and/or hypersensitivity to sound, and dysmorphic features, including mild facial abnormalities, strabismus, and small hands and feet (summary by Jansen et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD; IDDGIP

Medium match CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIC; CDG2C


Congenital disorder of glycosylation type IIc (CDG2C) is an autosomal recessive disorder characterized by moderate to severe psychomotor retardation, mild dysmorphism, and impaired neutrophil motility. It is a member of a group of disorders with a defect in the processing of protein-bound glycans. For a general overview of congenital disorders of glycosylation (CDGs), see CDG1A (OMIM ) and CDG2A (OMIM ).The neutrophil defect in CDG2C has been referred to as 'leukocyte adhesion deficiency type II' (LAD2), which is a manifestation of the disorder; there are no cases of 'primary' LAD II (Frydman, 1996).Etzioni and Harlan (1999) provided a comprehensive review of both LAD1 (OMIM ) and LAD2. While the functional neutrophil studies are similar in the 2 LADs, the clinical course is milder in LAD2. Furthermore, patients with LAD2 present other abnormal features, such as growth and mental retardation, which are related to the primary defect in fucose metabolism. Delayed separation of the umbilical cord occurs in LAD1.

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIC; CDG2C Is also known as cdgiic|rhs|lad2|cdg iic|rambam-hasharon syndrome|leukocyte adhesion deficiency, type ii

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIC; CDG2C

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Other less relevant matches:

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 57; MRD57


MRD57 is an autosomal dominant neurodevelopmental disorder with a highly variable phenotype. Most affected individuals have delayed psychomotor development apparent in infancy or early childhood, language delay, and behavioral abnormalities. Additional features may include hypotonia, feeding problems, gastrointestinal issues, and dysmorphic facial features (summary by Reijnders et al., 2018).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 57; MRD57

Medium match ACRODYSOSTOSIS WITH MULTIPLE HORMONE RESISTANCE


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Cryptorchidism
  • Delayed speech and language development


SOURCES: ORPHANET MENDELIAN

More info about ACRODYSOSTOSIS WITH MULTIPLE HORMONE RESISTANCE

Medium match 5Q14.3 MICRODELETION SYNDROME


The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy.

5Q14.3 MICRODELETION SYNDROME Is also known as monosomy 5q14.3|del(5)(q14.3)|mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about 5Q14.3 MICRODELETION SYNDROME

Medium match INTELLECTUAL DISABILITY-MICROCEPHALY-STRABISMUS-BEHAVIORAL ABNORMALITIES SYNDROME


Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome is a rare, genetic, syndromic intellecutal disability disorder characterized by craniofacial dysmorphism (microcephaly, hypotonic facies, strabismus, long and flat malar region, posteriorly rotated ears, flat nasal bridge with broad nasal tip, short philtrum, thin vermillion border, open mouth with down-turned corners, high arched palate, pointed chin), global developmental delay, intellectual disability and variable neurobehavioral abnormalities (autism spectrum disorder, aggressivness, self injury). Additional features include vision abnormalities and variable sensorineural hearing loss, as well as short stature, hypotonia and gastrointestinal manifestations (e.g. poor feeding, gastroesophageal reflux, constipation).

INTELLECTUAL DISABILITY-MICROCEPHALY-STRABISMUS-BEHAVIORAL ABNORMALITIES SYNDROME Is also known as mrd37|mental retardation, autosomal dominant 37

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY-MICROCEPHALY-STRABISMUS-BEHAVIORAL ABNORMALITIES SYNDROME

Medium match PERIPHERAL DYSOSTOSIS


Peripheral dysostosis is a rare primary bone dysplasia characterized by cone-shaped epiphyses of the phalanges, hyperextensibility and hyperflexibility of the fingers and marked delay in ossification of hand bones. Short-limbed short stature, very stubby, short fingers and toes, flat face and nose and a large skull may also be associated. There have been no further descriptions in the literature since 1980.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PERIPHERAL DYSOSTOSIS

Medium match X-LINKED INTELLECTUAL DISABILITY, CANTAGREL TYPE


X-linked Mental retardation Cantagrel type is characterised by marked neonatal hypotonia, progressive quadriparesia, severely delayed developmental milestones (walking at 3 years of age), gastroesophageal reflux, stereotypic movements of the hands, esotropia and infantile autism.

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, CANTAGREL TYPE

Medium match 15Q13.3 MICRODELETION SYNDROME


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

Top 5 symptoms//phenotypes associated to Brachydactyly and Autism

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

Patients with Brachydactyly and Autism. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases


Delayed speech and language development

Common Symptoms - More than 50% cases


Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases


Strabismus Microcephaly Anteverted nares Feeding difficulties Depressed nasal bridge Constipation Midface retrusion Autistic behavior Hypertelorism Posteriorly rotated ears Open mouth Mandibular prognathia Round face Short nose Short foot Attention deficit hyperactivity disorder Anxiety Thin upper lip vermilion Gastroesophageal reflux Obsessive-compulsive behavior Short philtrum Hypoplasia of the corpus callosum Growth delay Low-set ears Myopia

Rare Symptoms - Less than 30% cases


Hypospadias Obesity Malar flattening Intrauterine growth retardation Cryptorchidism Pointed chin Broad nasal tip Clinodactyly of the 5th finger Macrotia Hypothyroidism Prominent nasal bridge Tented upper lip vermilion Narrow mouth Upslanted palpebral fissure Stereotypy Abnormality of the skeletal system Epicanthus Diabetes mellitus Short phalanx of finger EEG abnormality Spinal canal stenosis Hearing impairment Ventriculomegaly Red hair Downturned corners of mouth High palate Fair hair Coloboma Blue irides Congenital hypothyroidism Short metacarpal Mild short stature Cone-shaped epiphysis Generalized myoclonic seizures Poor eye contact Short metatarsal Increased intracranial pressure Accelerated skeletal maturation Iris coloboma Absent speech Underdeveloped nasal alae Absence seizures Small hand Otitis media Severe global developmental delay Cerebral cortical atrophy Intellectual disability, severe Muscular hypotonia Broad-based gait Hypermetropia Recurrent otitis media Scoliosis Behavioral abnormality Abnormality of the outer ear Single transverse palmar crease Craniosynostosis Ptosis Febrile seizures Broad forehead Aggressive behavior Drooling Long nose Frontal cortical atrophy Periventricular white matter hyperdensities Sensorineural hearing impairment Coarse hair Optic atrophy Finger clinodactyly Hemiclonic seizures Postnatal microcephaly Short neck Blindness Tetraparesis Chronic rhinitis Cerebral atrophy Abnormality of cardiovascular system morphology Abnormality of the musculature Happy demeanor Rod-cone dystrophy Osteoarthritis Cupped ear Rhinitis Infantile spasms Schizophrenia Central hypothyroidism Abnormality of the periventricular white matter Large earlobe Cone-shaped epiphyses of the phalanges of the hand Eczema Shawl scrotum Agenesis of cerebellar vermis Periventricular leukomalacia Abnormal corpus callosum morphology Abnormality of nervous system morphology Protruding tongue Hernia Brachycephaly Hypoglycemic seizures Clinodactyly Abnormal electroretinogram Urinary incontinence Thin vermilion border Skeletal dysplasia Poor speech Focal impaired awareness seizure Postnatal growth retardation Esotropia Gait ataxia Neonatal hypotonia Hypertension Muscular hypotonia of the trunk Self-injurious behavior Abnormality of visual evoked potentials Facial hypotonia Cone/cone-rod dystrophy Cerebral visual impairment Joint laxity Nephrotic syndrome Astigmatism Delayed myelination Status epilepticus Hypsarrhythmia Focal-onset seizure Bilateral sensorineural hearing impairment Ataxia Congenital diaphragmatic hernia Failure to thrive Asthma Narrow forehead Hypoplasia of the maxilla Joint stiffness Spasticity Generalized-onset seizure Type I diabetes mellitus Pseudohypoparathyroidism Optic nerve hypoplasia Bronchiolitis Intellectual disability, progressive Leukocytosis Cellulitis Periodontitis Mild global developmental delay Echolalia Widow's peak Neutrophilia Coarse facial features Abnormality of the integument Reduction of neutrophil motility Flexion contracture Diarrhea Kyphosis Pes planus Telecanthus Bulbous nose Severe short stature Microtia Pain Syndactyly Agenesis of corpus callosum Dental malocclusion Low anterior hairline Hallux valgus Partial agenesis of the corpus callosum Anterior plagiocephaly Fever Pneumonia Atrial septal defect Vomiting Low-set, posteriorly rotated ears Hyperlordosis Wide mouth Small nail Recurrent infections Abnormality of metabolism/homeostasis Blepharophimosis Long face Plagiocephaly Protruding ear Motor delay Downslanted palpebral fissures Dilatation Encephalopathy Myoclonus High forehead Deeply set eye Generalized tonic-clonic seizures Absent/hypoplastic paranasal sinuses Toe syndactyly Thick eyebrow Inability to walk Everted lower lip vermilion Convex nasal ridge Epileptic encephalopathy Heterotopia Short chin Congenital craniofacial dysostosis Hypoplasia of the nasal bone Joint hypermobility Growth hormone deficiency Hypertrichosis Hoarse voice Toe walking Hyperventilation Microtia, first degree Tall chin Hypogonadism Specific learning disability Low urinary cyclic AMP response to PTH administration Short toe Hypocalcemia Hyperphosphatemia Elevated circulating parathyroid hormone level Hypoplastic vertebral bodies Elevated calcitonin Cerebral venous thrombosis Narrow vertebral interpedicular distance Bipolar affective disorder



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