Brachydactyly, and Autistic behavior

Diseases related with Brachydactyly and Autistic behavior

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


Top matches:

Low 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

Low 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

Low 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

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match INTELLECTUAL DISABILITY-COARSE FACE-MACROCEPHALY-CEREBELLAR HYPOTROPHY SYNDROME


Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome is a rare, genetic, central nervous system malformation syndrome characterized by early-onset, progressive, severe cerebellar ataxia associated with progressive, moderate to severe intellecutal disability, global developmental delay, progressively coarsening facial features, relative macrocephaly and absence of seizures. Sensorineural hearing loss may be associated. Neuroimaging reveals cerebellar atrophy/hypoplasia.

INTELLECTUAL DISABILITY-COARSE FACE-MACROCEPHALY-CEREBELLAR HYPOTROPHY SYNDROME Is also known as intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome|scar20|autosomal recessive spinocerebellar ataxia type 20

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-COARSE FACE-MACROCEPHALY-CEREBELLAR HYPOTROPHY SYNDROME

Low 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

Low 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

Low 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

Low 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

Low 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

Low 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

Top 5 symptoms//phenotypes associated to Brachydactyly and Autistic behavior

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Autism Very Common - Between 80% and 100% cases
Intellectual disability Very Common - Between 80% and 100% cases
Delayed speech and language development Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Short stature

Uncommon Symptoms - Between 30% and 50% cases


Hyperactivity

Common Symptoms - More than 50% cases


Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases


Anteverted nares

Common Symptoms - More than 50% cases


Strabismus

Uncommon Symptoms - Between 30% and 50% cases


Seizures Feeding difficulties Microcephaly Hypertelorism Constipation Midface retrusion Depressed nasal bridge Short foot Hypoplasia of the corpus callosum Growth delay Attention deficit hyperactivity disorder Obsessive-compulsive behavior Anxiety Epicanthus Mandibular prognathia Round face Hearing impairment Cerebral cortical atrophy High palate Scoliosis Absent speech Thin upper lip vermilion Open mouth Gastroesophageal reflux Short philtrum Low-set ears Myopia Short nose Posteriorly rotated ears

Rare Symptoms - Less than 30% cases


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



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Fever and Lymphopenia, related diseases and genetic alterations Hyperreflexia and Short neck, related diseases and genetic alterations Wide nasal bridge and Renal agenesis, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more