Brachydactyly, and Aggressive behavior

Diseases related with Brachydactyly and Aggressive behavior

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


Top matches:

Medium match JAWAD SYNDROME


Jawad syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly wih facial dysmorphism (sloping forehead, prominent nose, mild retrognathia), moderate to severe, non-progressive intellectual disability and symmetrical digital malformations of variable degree, including brachydactyly of the fifth fingers with single flexion crease, clinodactyly, syndactyly, polydactyly and hallux valgus. Congenital anonychia and white café au lait-like spots on the skin of hands and feet are also associated.

JAWAD SYNDROME Is also known as microcephaly with mental retardation and digital anomalies|kelly syndrome

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Cryptorchidism
  • Intellectual disability, severe
  • Syndactyly


SOURCES: OMIM ORPHANET MENDELIAN

More info about JAWAD SYNDROME

Medium match PSEUDOPSEUDOHYPOPARATHYROIDISM


Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO; see this term) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP; see this term).

PSEUDOPSEUDOHYPOPARATHYROIDISM Is also known as aho-pphp syndrome|albright hereditary osteodystrophy without multiple hormone resistance|albright hereditary osteodystrophy-pphp syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PSEUDOPSEUDOHYPOPARATHYROIDISM

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

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Other less relevant matches:

Medium match DUPLICATION/INVERSION 15Q11


The duplication/inversion 15q11 or isodicentric 15 chromosome (inv dup(15) or idic(15)) syndrome is a chromosomal disorder with distinctive clinical findings characterized by early central hypotonia, developmental delay and intellectual deficit, epilepsy, and autistic behavior.

DUPLICATION/INVERSION 15Q11 Is also known as invdup(15)|non-distal tetrasomy 15q|isodicentric 15 chromosome|non-telomeric tetrasomy 15q|idic(15)

Related symptoms:

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


SOURCES: ORPHANET MESH MENDELIAN

More info about DUPLICATION/INVERSION 15Q11

Medium match MICROGNATHIA-RECURRENT INFECTIONS-BEHAVIORAL ABNORMALITIES-MILD INTELLECTUAL DISABILITY SYNDROME


Autosomal dominant mental retardation-44 is characterized by mildly delayed global development, resulting in variable intellectual deficits or learning difficulties, distinctive facial features, and abnormalities of the fingers, particularly brachydactyly, tapering fingers, and broad interphalangeal joints. Most patients also have microcephaly; additional features are highly variable (summary by Ba et al., 2016).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROGNATHIA-RECURRENT INFECTIONS-BEHAVIORAL ABNORMALITIES-MILD INTELLECTUAL DISABILITY SYNDROME

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

Medium match X-LINKED INTELLECTUAL DISABILITY WITH MARFANOID HABITUS


The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems.

X-LINKED INTELLECTUAL DISABILITY WITH MARFANOID HABITUS Is also known as lujan syndrome|mental retardation, x-linked, with marfanoid habitus|lujan-fryns syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY WITH MARFANOID HABITUS

Medium match SYNDROMIC X-LINKED INTELLECTUAL DISABILITY DUE TO JARID1C MUTATION


Syndromic X-linked intellectual disability due to JARID1C mutation is characterised by mild to severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech and behavioural problems. To date, it has been described in less than 15 families. Transmission is X-linked recessive and the syndrome is caused by mutations in the JARID1C (SMCX) gene encoding a JmjC-domain protein with histone demethylase activity.

SYNDROMIC X-LINKED INTELLECTUAL DISABILITY DUE TO JARID1C MUTATION Is also known as mental retardation, x-linked, syndromic, jarid1c-related|mrxsj

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SYNDROMIC X-LINKED INTELLECTUAL DISABILITY DUE TO JARID1C MUTATION

Medium match MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME


Microcephaly-capillary malformation syndrome is a rare, genetic vascular anomaly characterized by severe congenital microcephaly, poor somatic growth, diffuse multiple capillary malformations on the skin, intractable epilepsy, profound global developmental delay, spastic quadriparesis and hypoplastic distal phalanges.

MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME Is also known as mic-cap syndrome|microcephaly-cutaneous capillary malformation syndrome|mic-cm syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME

Medium match INTELLECTUAL DISABILITY-SPARSE HAIR-BRACHYDACTYLY SYNDROME


Intellectual disability-sparse hair-brachydactyly syndrome is a very rare condition of unknown etiology consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe mental delay. After the initial delineation of this syndrome by Nicolaides and Baraitser in 1993, only five more patients were published in the literature up to now.

INTELLECTUAL DISABILITY-SPARSE HAIR-BRACHYDACTYLY SYNDROME Is also known as sparse hair and mental retardation|nbs|nicolaides-baraitser syndrome

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY-SPARSE HAIR-BRACHYDACTYLY SYNDROME

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

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Feeding difficulties

Uncommon Symptoms - Between 30% and 50% cases


Poor speech Abnormal facial shape Short stature Micrognathia Thin upper lip vermilion Absent speech Clinodactyly Brachycephaly Hyperactivity Growth delay Delayed speech and language development Autism High palate Cryptorchidism Epicanthus Macrotia Intellectual disability, severe Spasticity Prominent nasal bridge Synophrys Anteverted nares Pectus excavatum Deeply set eye Short nose Hypoplasia of the maxilla Short philtrum Autistic behavior Drooling Short distal phalanx of finger Intrauterine growth retardation Ventricular septal defect Cognitive impairment Strabismus Downslanted palpebral fissures Failure to thrive

Rare Symptoms - Less than 30% cases


Hernia Talipes equinovarus Long nose Frontal bossing Absence seizures Stereotypy Open mouth Protruding tongue Long philtrum Broad nasal tip Obsessive-compulsive behavior Narrow nasal bridge Intellectual disability, moderate Smooth philtrum Short palm High, narrow palate Camptodactyly of finger Protruding ear Macrocephaly Low-set ears Cleft palate Scoliosis Schizophrenia Abnormality of finger Low anterior hairline 2-3 toe syndactyly Short phalanx of finger Dental crowding Tapered finger Thick eyebrow Small for gestational age Wide nose Attention deficit hyperactivity disorder High forehead Upslanted palpebral fissure Status epilepticus Behavioral abnormality Hyperreflexia Echolalia Tetraparesis Low frustration tolerance Osteoporosis Severe global developmental delay Single transverse palmar crease Clinodactyly of the 5th finger Hypoplasia of the corpus callosum Short metacarpal Round face Muscular hypotonia of the trunk Full cheeks Gait ataxia Postnatal growth retardation Thin vermilion border Sloping forehead Short foot Obesity Abnormality of the skeletal system Short metatarsal Eclabion Wide nasal base Diastema Broad distal phalanx of finger Alopecia areata Excessive wrinkled skin Broad columella Hearing impairment Lower limb hypertonia Enlarged joints Small forehead Talipes calcaneovarus Shuffling gait Broad philtrum Abnormality of the testis Hypertelorism Ptosis Abnormal hair pattern Wide nasal bridge Furrowed tongue Thick nasal alae Distal lower limb amyotrophy Prominent eyelashes Oppositional defiant disorder Cat cry Abnormally folded helix Unilateral narrow palpebral fissure Myopia Babinski sign Micropenis Mandibular prognathia Prominent interphalangeal joints Spastic paraplegia Hypermetropia Paraplegia Falls Facial hypotonia Curly eyelashes Decreased testicular size Interphalangeal joint contracture of finger Clubbing of toes Decreased body weight Intellectual disability, progressive Large hands Lower limb hyperreflexia Dysphasia Progressive spastic paraplegia Multiple cafe-au-lait spots Restlessness Epileptic spasms Triangular face Aphasia Thick lower lip vermilion Joint dislocation Capillary malformation Hemiclonic seizures Abnormality of epiphysis morphology Long eyelashes Broad-based gait Sparse scalp hair Short palpebral fissure Abnormal hair whorl Velopharyngeal insufficiency Delayed skeletal maturation Narrow palpebral fissure Alopecia Severe short stature Coarse facial features Wide mouth Sparse hair Eczema Specific learning disability Wide intermamillary distance Blepharophimosis Hypotrichosis Everted lower lip vermilion Right ventricular hypertrophy Short 5th finger Optic atrophy Ventricular hypertrophy Cerebral atrophy Myoclonus Absent eyebrow Highly arched eyebrow Cone-shaped epiphysis Downturned corners of mouth Delayed myelination Overfolded helix Vesicoureteral reflux Abnormality of the metacarpal bones Oligohydramnios Mutism Central hypotonia Small nail Widely spaced teeth Wide anterior fontanel Progressive microcephaly Short toe Spastic tetraparesis Sandal gap Patent foramen ovale Cortical gyral simplification Accelerated skeletal maturation Long palpebral fissure Abnormality of cardiovascular system morphology Mild global developmental delay Ascending tubular aorta aneurysm Nephrotic syndrome Cerebral cortical atrophy Hypothyroidism Gastroesophageal reflux EEG abnormality Neonatal hypotonia Generalized myoclonic seizures Urinary incontinence Underdeveloped nasal alae Esotropia Generalized-onset seizure Narrow forehead Hypsarrhythmia Ventriculomegaly Postnatal microcephaly Finger clinodactyly Tented upper lip vermilion Coarse hair Abnormality of the musculature Poor eye contact Shawl scrotum Central hypothyroidism Hypogonadism Low-set, posteriorly rotated ears Joint hypermobility Constipation Ataxia Precocious puberty 4-5 toe syndactyly Syndactyly Polydactyly Retrognathia Toe syndactyly Prominent nose Hallux valgus Anonychia Abnormality of digit Thoracic scoliosis Short middle phalanx of the 5th finger Congenital microcephaly Single interphalangeal crease of fifth finger Ectopic calcification Absent fourth finger distal interphalangeal crease Nystagmus Pain Cataract Depressed nasal bridge Short neck Delayed eruption of teeth Cerebral calcification Hypoplasia of dental enamel Impulsivity Short 4th metacarpal Pseudohypoparathyroidism Tetralogy of Fallot Unilateral renal agenesis Impaired social interactions Narrow face Agenesis of corpus callosum Prominent forehead Joint laxity Neurological speech impairment Joint hyperflexibility Arachnodactyly Long face Psychosis Broad thumb Anorexia Hallucinations Short chin Intellectual disability, mild Aplasia/Hypoplasia of the corpus callosum Abnormality of the genitourinary system Deep philtrum Nasal speech Abnormality of the voice Aortic aneurysm Emotional lability Disproportionate tall stature Slender finger Aortic root aneurysm Macroorchidism Abnormality of the rib cage Dilatation Abnormality of the dentition Neurodevelopmental delay Broad forehead Gonadal dysgenesis Abnormality of brain morphology Severe expressive language delay Self-biting Severe receptive language delay Motor delay Dysphagia Kyphosis Recurrent infections Pes planus Abnormal cardiac septum morphology Facial asymmetry Atrial septal defect Thick vermilion border Hypodontia Syncope Abnormality of the hand Absent radius Ventricular extrasystoles Obsessive-compulsive trait Hyperacusis Aplasia of the 1st metacarpal Bipolar affective disorder Muscular hypotonia Flexion contracture Prominent proximal interphalangeal joints



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