Brachydactyly, and Arachnodactyly

Diseases related with Brachydactyly and Arachnodactyly

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


Top matches:

Medium match BRACHYDACTYLY, TYPE A1, D; BDA1D


Related symptoms:

  • Delayed speech and language development
  • Brachydactyly
  • Syndactyly
  • Clinodactyly
  • Clinodactyly of the 5th finger


SOURCES: OMIM MENDELIAN

More info about BRACHYDACTYLY, TYPE A1, D; BDA1D

Medium match GORLIN SYNDROME


Gorlin syndrome (GS) is a genodermatosis characterized by multiple early-onset basal cell carcinoma (BCC), odontogenic keratocysts and skeletal abnormalities.

GORLIN SYNDROME Is also known as nbccs|basal cell nevus syndrome|nevoid basal cell carcinoma syndrome|gorlin-goltz syndrome

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Hypertelorism
  • Neoplasm
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about GORLIN 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

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Other less relevant matches:

Medium match MARFAN SYNDROME TYPE 1


MARFAN SYNDROME TYPE 1 Is also known as aortic aneurysm, familial thoracic 3|marfan syndrome, type ii, formerly|mfs1|aat3

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MARFAN SYNDROME TYPE 1

Medium match 2Q32Q33 MICRODELETION SYNDROME


2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features.

2Q32Q33 MICRODELETION SYNDROME Is also known as monosomy 2q32-q33|2q32-q33 microdeletion syndrome|del(2)(q32q33)|chromosome 2q32-q33 deletion syndrome|monosomy 2q32q33|del(2)(q32)|monosomy 2q32

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 2Q32Q33 MICRODELETION SYNDROME

Medium match 15Q24 MICRODELETION SYNDROME


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.

15Q24 MICRODELETION SYNDROME Is also known as monosomy 15q24|del(15)(q24)

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about 15Q24 MICRODELETION SYNDROME

Medium match BASAL CELL NEVUS SYNDROME; BCNS


BASAL CELL NEVUS SYNDROME; BCNS Is also known as nevoid basal cell carcinoma syndrome|gorlin-goltz syndrome|gorlin syndrome|nbccs|multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about BASAL CELL NEVUS SYNDROME; BCNS

Medium match CORNELIA DE LANGE SYNDROME 4; CDLS4


Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Cleft palate
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 4; CDLS4

Medium match MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1


The term 'X-linked mental retardation-hypotonic facies syndrome' comprises several syndromes previously reported separately. These include Juberg-Marsidi, Carpenter-Waziri, Holmes-Gang, and Smith-Fineman-Myers syndromes as well as 1 family with X-linked mental retardation with spastic paraplegia. All these syndromes were found to be caused by mutation in the XH2 gene and are characterized primarily by severe mental retardation, dysmorphic facies, and a highly skewed X-inactivation pattern in carrier women (Abidi et al., 2005). Other more variable features include hypogonadism, deafness, renal anomalies, and mild skeletal defects.X-linked alpha-thalassemia/mental retardation syndrome (ATR-X; {301040}) is an allelic disorder with a similar phenotype with the addition of alpha-thalassemia and Hb H inclusion bodies in erythrocytes.

MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1 Is also known as smith-fineman-myers syndrome 1|chudley-lowry syndrome|holmes-gang syndrome|mental retardation, x-linked, with growth retardation, deafness, and microgenitalism|xlmr-hypotonic facies syndrome|carpenter-waziri syndrome|sfms|sfm1|jms|juberg-marsidi syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1

Medium match ERYTHROKERATODERMIA VARIABILIS


The erythrokeratodermias are a clinically variable and genetically heterogeneous group of inherited disorders characterized by widespread erythematous plaques, stationary or migratory, associated with nonmigratory hyperkeratoses (summary by Ishida-Yamamoto et al., 1997). The condition is usually present at birth or occurs during the first year but may begin later in childhood or even in early adulthood. Lesions preferentially affect the face, buttocks, and extensor surfaces of the limbs. Palmoplantar keratoderma occurs in about half the cases, but hair, nails, and teeth are not affected (summary by Macfarlane et al., 1991). Genetic Heterogeneity of Erythrokeratodermia Variabilis et ProgressivaSee EKVP2 (OMIM ), caused by mutation in the GJB4 gene (OMIM ); EKVP3 (OMIM ), caused by mutation in the GJA1 gene (OMIM ); EKVP4 (OMIM ), caused by mutation in the KDSR gene (OMIM ); and EKVP5 (OMIM ), caused by mutation in the KRT83 gene (OMIM ).

ERYTHROKERATODERMIA VARIABILIS Is also known as psek|erythrokeratodermia variabilis et progressiva|ekvp|ekv|erythrokeratodermia variabilis, mendes da costa type|erythrokeratodermia figurata, congenital familial, in plaques|erythrokeratodermia, progressive symmetric|erythrokeratodermia variabilis with e

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about ERYTHROKERATODERMIA VARIABILIS

Top 5 symptoms//phenotypes associated to Brachydactyly and Arachnodactyly

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Cleft palate Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Microcephaly

Uncommon Symptoms - Between 30% and 50% cases


Wide nasal bridge Scoliosis High palate Short stature Frontal bossing Hyperactivity Attention deficit hyperactivity disorder Cryptorchidism Brachycephaly Generalized hypotonia Epicanthus Anteverted nares Abnormal facial shape Strabismus Joint laxity Thin upper lip vermilion Hearing impairment Slender finger Seizures Clinodactyly Syndactyly Growth delay Protruding ear Joint hyperflexibility Prominent nasal bridge Open mouth Aggressive behavior High forehead Autism Long face Inguinal hernia Dental crowding Exotropia Downslanted palpebral fissures Ptosis Spasticity Long philtrum Short nose Posteriorly rotated ears Upslanted palpebral fissure Smooth philtrum Intellectual disability, severe Broad forehead Thick eyebrow Dilatation Hernia Malar flattening Talipes equinovarus Tapered finger Disproportionate tall stature Pectus excavatum Delayed speech and language development Narrow face Low-set ears Hemivertebrae Telecanthus Glaucoma Hydrocephalus Cataract Muscular hypotonia Iris coloboma Abnormality of the dentition Clinodactyly of the 5th finger Macrocephaly

Rare Symptoms - Less than 30% cases


Narrow nose Camptodactyly Postaxial polydactyly Neoplasm of the skin Dolichocephaly Pectus carinatum Thin vermilion border Mandibular prognathia Hyperreflexia Pes planus Facial asymmetry Retrognathia Proptosis Polydactyly Osteoporosis Pes cavus Carious teeth Highly arched eyebrow Relative macrocephaly Tented upper lip vermilion Abnormality of the foot Obesity Depressed nasal bridge Midface retrusion Hypertonia Short distal phalanx of the thumb Microretrognathia Microphthalmia Hyperhidrosis Abnormality of cardiovascular system morphology Hypospadias Drooling Hypogonadism High anterior hairline Neoplasm Micropenis Narrow mouth Behavioral abnormality Conspicuously happy disposition Postnatal growth retardation Sparse hair Myopathic facies Intellectual disability, mild Hypogonadotrophic hypogonadism Coarse facial features Decreased testicular size Gastroesophageal reflux Widely spaced teeth Abnormality of the sense of smell Fine hair Vertebral wedging Broad thumb Palmar pits Hemiparesis Plantar pits Nasal speech Radial deviation of finger Short philtrum Camptodactyly of finger Flexion contracture Feeding difficulties Intrauterine growth retardation Atrial septal defect Mild short stature Kyphoscoliosis Abnormality of the skeletal system Cerebral calcification Abnormality of the voice Vertebral fusion Short palm Pain Melanocytic nevus Abnormality of digit Wide nose Toe clinodactyly Sleep disturbance Ascending tubular aorta aneurysm Thick lower lip vermilion Abnormality of the genital system Palmoplantar keratoderma Abnormality of the neck Aortic aneurysm Long nose Supernumerary ribs Medulloblastoma Fibroma Parietal bossing Calcification of falx cerebri Multiple impacted teeth Astrocytoma Cervical ribs Hamartomatous polyposis Severe hydrocephalus Broad face Ectopic calcification Orbital cyst Brain neoplasm Ovarian carcinoma Ulcerative colitis Bradycardia Neoplasm of the endocrine system EEG abnormality Cleft upper lip Hypotrichosis Papule Coloboma Facial palsy Cleft lip Proteinuria Carcinoma Abdominal pain Nevus Visual loss Dysarthria Motor delay Ataxia Abnormality of the proximal phalanx of the thumb Medial flaring of the eyebrow Gastrointestinal atresia Long palm Oral cleft Hypotension Short 4th metacarpal Long fingers Skin tags Down-sloping shoulders Fragile nails Sprengel anomaly Thoracic scoliosis Abnormality of the sternum Colitis Agenesis of permanent teeth Basal cell carcinoma Abnormality of the ribs Milia Inflammation of the large intestine Nephritis Glomerulonephritis Spina bifida occulta Muscle stiffness Short ribs Spina bifida Hyperpigmentation of the skin Histiocytoma Paraplegia Curved fingers Hypoplastic philtrum Weight loss Hyperkeratosis Diabetes mellitus Alopecia Triangular nasal tip Overjet Paroxysmal bursts of laughter Alternating exotropia Equinovarus deformity Skin rash Widely-spaced maxillary central incisors Talipes calcaneovalgus Bilateral renal hypoplasia U-Shaped upper lip vermilion Short upper lip Lower limb hypertonia Asplenia Facial hypotonia Erythema Corneal opacity Abnormality of blood and blood-forming tissues Scaling skin Diffuse palmoplantar hyperkeratosis Diffuse palmoplantar keratoderma Generalized hyperkeratosis Hypergranulosis Abnormality of the testis Irregular hyperpigmentation Macule Hypermelanotic macule Palmoplantar hyperkeratosis Pruritus Generalized hirsutism Abnormality of the nail Abnormality of the hair Thickened skin Hypertrichosis Cutaneous photosensitivity Epidermal acanthosis Abnormal blistering of the skin Dry skin Protruding tongue External genital hypoplasia Bifid ribs Radioulnar synostosis Optic atrophy Sensorineural hearing impairment Prominent eyelashes Vertebral clefting Exostoses Submucous cleft hard palate Short femoral neck Cutis marmorata Finger clinodactyly Vomiting Intestinal malrotation Synophrys Hamartomatous stomach polyps Irregular ossification of hand bones Cardiac fibroma Bridged sella turcica Ovarian fibroma Odontogenic keratocysts of the jaw Cardiac rhabdomyoma Short neck Delayed skeletal maturation Bilateral cryptorchidism Macroglossia Encephalitis Scrotal hypoplasia Infantile muscular hypotonia Intellectual disability, progressive Increased body weight Renal hypoplasia Narrow forehead Vesicoureteral reflux Thick vermilion border Constipation Dysplastic corpus callosum Genu valgum Nail dystrophy Spastic paraplegia Microtia Wide mouth Abnormality of the kidney Cerebral cortical atrophy Pneumonia Large fleshy ears Median cleft palate Anisocoria Ectopia lentis Arterial tortuosity Thoracic aortic aneurysm Dermal translucency Spondylolisthesis Aortic dissection Dilatation of the cerebral artery Striae distensae Arnold-Chiari malformation Protrusio acetabuli Bicuspid aortic valve Narrow palate Joint contracture of the hand Blue sclerae Mitral valve prolapse Chest pain Bifid uvula Dural ectasia Mild myopia Joint hypermobility Anxiety Prominent nose Ectodermal dysplasia Downturned corners of mouth Bulbous nose Talipes Poor speech Abnormality of the cerebral white matter Osteopenia Ascending aortic dissection Absent speech Generalized arterial tortuosity Bicuspid pulmonary valve Spontaneous pneumothorax Descending thoracic aorta aneurysm Pulmonary artery aneurysm Absent distal phalanges Recurrent fractures Abnormal cardiac septum morphology Nail dysplasia Ventricular septal defect Hallucinations Anorexia Psychosis Hypoplasia of the maxilla Neurological speech impairment Prominent forehead Agenesis of corpus callosum Cognitive impairment Aplasia/Hypoplasia of the corpus callosum Short distal phalanx of the 2nd finger Short proximal phalanx of thumb Aplasia/Hypoplasia of the middle phalanx of the 2nd finger Poor motor coordination Short 2nd finger Short proximal phalanx of finger Short middle phalanx of the 5th finger Short chin Abnormality of the genitourinary system Craniosynostosis Velopharyngeal insufficiency Umbilical hernia Patent ductus arteriosus Myopia Abnormally folded helix Cat cry Oppositional defiant disorder Low frustration tolerance Impaired social interactions Schizophrenia Abnormality of the rib cage Macroorchidism Aortic root aneurysm Narrow nasal bridge Emotional lability Obsessive-compulsive behavior Deep philtrum Dental malocclusion Febrile seizures Flared nostrils Delayed myelination Cafe-au-lait spot Short thumb Small nail Interphalangeal joint contracture of finger Congenital diaphragmatic hernia Growth hormone deficiency Underdeveloped nasal alae Single transverse palmar crease Hoarse voice Small hand High, narrow palate Polymicrogyria Toe syndactyly Hypermetropia Severe global developmental delay Small for gestational age Sparse and thin eyebrow Bilateral single transverse palmar creases Developmental regression Microphallus Deep plantar creases Thick nasal alae Unilateral cryptorchidism Abnormality of nervous system morphology Wide nasal base Thick hair Intestinal atresia Overlapping fingers Pointed chin Thick upper lip vermilion Insomnia Cupped ear Proximal placement of thumb Abnormality of the thorax Abnormality of the outer ear Sandal gap Autistic behavior Feeding difficulties in infancy Convex nasal ridge Overlapping toe Conical tooth Broad hallux phalanx Short columella Self-mutilation Abnormality of the periventricular white matter Restlessness Bilateral talipes equinovarus Abnormality of dental morphology Generalized osteoporosis Dermal atrophy Oligodontia Long eyelashes Broad-based gait Thin skin Short palpebral fissure Intellectual disability, profound Cleft soft palate Excessive salivation Low-set, posteriorly rotated ears Ventriculomegaly Muscular hypotonia of the trunk Deeply set eye Macrotia Polyhydramnios Recurrent infections Immunodeficiency Hypoplasia of the corpus callosum Nystagmus Overbite Narrow jaw Narrow maxilla Incomprehensible speech Dacryocystitis Large beaked nose Happy demeanor Pes valgus Patchy palmoplantar keratoderma



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