Brachydactyly, and Single transverse palmar crease

Diseases related with Brachydactyly and Single transverse palmar crease

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


Top matches:

Medium match MULTIPLE SYNOSTOSES SYNDROME


Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints.

MULTIPLE SYNOSTOSES SYNDROME Is also known as wl syndrome|facio-audio-symphalangism|symphalangism-brachydactyly syndrome|deafness-hermann type symphalangism syndrome

Related symptoms:

  • Brachydactyly
  • Conductive hearing impairment
  • Joint stiffness
  • Facial asymmetry
  • Short palm


SOURCES: ORPHANET MENDELIAN

More info about MULTIPLE SYNOSTOSES SYNDROME

Medium match ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE


Acromesomelic dysplasia, Hunter-Thomson type is an autosomal recessively inherited form of acromesomelic dysplasia (see this term) characterized by severe dwarfism (adult height approximately 120 cm) with abnormalities limited to the limbs (affecting the lower limbs more than upper limbs, with middle and distal segments being the most affected), severe shortening, absence or fusion of tubular bones of hands and feet and large joint dislocations. As seen in acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Maroteaux type (see these terms), facial features and intelligence are normal.

ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE Is also known as acromesomelic dwarfism

Related symptoms:

  • Scoliosis
  • Cognitive impairment
  • Brachydactyly
  • Joint stiffness
  • Neurological speech impairment


SOURCES: ORPHANET MENDELIAN

More info about ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE

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

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Other less relevant matches:

Medium match BRACHYDACTYLY-DISTAL SYMPHALANGISM SYNDROME


Related symptoms:

  • Pes cavus
  • Thin upper lip vermilion
  • Camptodactyly of finger
  • Single transverse palmar crease
  • Tall stature


SOURCES: OMIM MENDELIAN

More info about BRACHYDACTYLY-DISTAL SYMPHALANGISM SYNDROME

Medium match FIBULAR APLASIA-COMPLEX BRACHYDACTYLY SYNDROME


Fibular aplasia-complex brachydactyly syndrome is characterised by severe reduction or absence of the fibula and complex brachydactyly. Less than 30 cases have been described in the literature so far. The syndrome is inherited in an autosomal recessive manner and is caused by mutations in the cartilage-derived morphogenetic protein-1 gene (WCDMP1).

FIBULAR APLASIA-COMPLEX BRACHYDACTYLY SYNDROME Is also known as du pan syndrome

Related symptoms:

  • Short stature
  • Brachydactyly
  • Syndactyly
  • Severe short stature
  • Finger syndactyly


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about FIBULAR APLASIA-COMPLEX BRACHYDACTYLY SYNDROME

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 SHORT STATURE-OPTIC ATROPHY-PELGER-HUËT ANOMALY SYNDROME


Among the Yakuts, an Asian population isolate that is located in the northeastern part of Siberia, Maksimova et al. (2010) ascertained a short stature syndrome involving autosomal recessive postnatal growth failure, small hands and feet, loss of visual acuity with abnormalities of color vision, abnormal nuclear shape in neutrophil granulocytes (Pelger-Huet anomaly; see {169400}), and normal intelligence.

SHORT STATURE-OPTIC ATROPHY-PELGER-HUËT ANOMALY SYNDROME Is also known as soph syndrome

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHORT STATURE-OPTIC ATROPHY-PELGER-HUËT ANOMALY SYNDROME

Medium match LAURENCE-MOON SYNDROME


Laurence-Moon syndrome (LMS) is a very rare genetic multisystemic disorder characterized by pituitary dysfunction, ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinal dystrophy.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about LAURENCE-MOON SYNDROME

Medium match RIN2 SYNDROME


RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly (see this term) have also been reported.

RIN2 SYNDROME Is also known as rin2 deficiency|tall forehead, sparse hair, skin hyperextensibility, and scoliosis|tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome|macrocephaly-alopecia-cutis laxa-scoliosis syndrome|macs syndrome|macrocephaly, alopecia, cutis laxa, a

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Muscular hypotonia
  • Cryptorchidism


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about RIN2 SYNDROME

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

Top 5 symptoms//phenotypes associated to Brachydactyly and Single transverse palmar crease

Symptoms // Phenotype % cases
Short stature Uncommon - Between 30% and 50% cases
Bilateral single transverse palmar creases Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Strabismus Uncommon - Between 30% and 50% cases
Syndactyly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Brachydactyly and Single transverse palmar crease. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Cryptorchidism Narrow forehead

Rare Symptoms - Less than 30% cases


Thin vermilion border Autism Postnatal growth retardation Brachycephaly Hallux valgus Long philtrum Micromelia Finger syndactyly Epicanthus Muscular hypotonia Growth delay Generalized hypotonia Aggressive behavior Global developmental delay Retrognathia Microcephaly Joint stiffness Facial asymmetry Ataxia Scoliosis Cognitive impairment Short metacarpal Aplasia of the middle phalanx of the hand Tarsal synostosis Cutis laxa Patellar dislocation Gingival overgrowth Overgrowth Everted lower lip vermilion Hyperextensible skin High pitched voice Premature ovarian insufficiency Sparse and thin eyebrow High myopia Aortic aneurysm Increased susceptibility to fractures Bronchiectasis Thick lower lip vermilion Hypergonadotropic hypogonadism Redundant skin Decreased body weight Sparse scalp hair Pes planus Thick vermilion border Dilatation Iris coloboma Hypoplasia of penis Type II diabetes mellitus Hand polydactyly Congenital hepatic fibrosis Displacement of the external urethral meatus Abnormality of the antitragus High palate Macrocephaly Downslanted palpebral fissures Hernia Hirsutism Alopecia Osteoporosis Hypogonadism Coarse facial features Umbilical hernia Abnormality of the sternum Joint laxity Sparse hair Ichthyosis Joint hypermobility Bruising susceptibility Prolonged bleeding time Seizures Palpebral edema Status epilepticus Short philtrum Prominent nasal bridge Severe global developmental delay Poor speech Generalized myoclonic seizures Urinary incontinence Round face Underdeveloped nasal alae Esotropia Generalized-onset seizure Nephrotic syndrome Hypsarrhythmia Tetraparesis Muscular hypotonia of the trunk Open mouth Postnatal microcephaly Stereotypy Finger clinodactyly Absence seizures Drooling Tented upper lip vermilion Coarse hair Long nose Abnormality of the musculature Poor eye contact Protruding tongue Shawl scrotum Autistic behavior Neonatal hypotonia Abnormality of the vasculature Delayed speech and language development Generalized osteoporosis Eclabion Urethral stenosis Irregular dentition Abnormal lip morphology Upper eyelid edema Infra-orbital fold Obesity Failure to thrive Abnormal facial shape Spasticity Feeding difficulties Ventriculomegaly EEG abnormality Anteverted nares Hypoplasia of the corpus callosum Short nose Absent speech Clinodactyly Clinodactyly of the 5th finger Constipation Hyperactivity Cerebral cortical atrophy Gait ataxia Hypothyroidism Gastroesophageal reflux Macrotia Low-set, posteriorly rotated ears Small hand Abnormality of cardiovascular system morphology Severe short stature Abnormal vertebral morphology Carpal synostosis Broad foot Thoracolumbar scoliosis Flat acetabular roof Short 1st metacarpal Short lower limbs Distal symphalangism of hands Type A1 brachydactyly Chess-pawn distal phalanges Limitation of joint mobility Camptodactyly of finger Small nail Short phalanx of finger Abnormality of epiphysis morphology Rhizomelia Short long bone Disproportionate short-limb short stature Short metatarsal Short middle phalanx of finger Abnormality of the hip bone Narrow nasal bridge Fibular hypoplasia Tall stature Thin upper lip vermilion Abnormality of the ulna Abnormality of the ankles Short palm Broad thumb Abnormality of the nail Cone-shaped epiphysis Symphalangism affecting the phalanges of the hand Neurological speech impairment Hip dislocation Short thumb Abnormality of pelvic girdle bone morphology Elbow dislocation Severe short-limb dwarfism Pes cavus Acromesomelia Cuboidal metacarpal Abnormally shaped carpal bones Ptosis Agenesis of corpus callosum Craniosynostosis Dental malocclusion Low anterior hairline Abnormality of the outer ear Partial agenesis of the corpus callosum Anterior plagiocephaly Synostosis of carpal bones Abnormality of the thumb Renal insufficiency Conductive hearing impairment Myopia Optic atrophy Short neck Blindness Delayed skeletal maturation Reduced visual acuity Proptosis Hypermetropia Long face Thick eyebrow Progressive visual loss Absent fourth finger distal interphalangeal crease Fine hair Sandal gap Dyschromatopsia Achromatopsia Prominent glabella Blue cone monochromacy Hyposegmentation of neutrophil nuclei Nonprogressive visual loss Nystagmus Sensorineural hearing impairment Cataract Hypertelorism Single interphalangeal crease of fifth finger Abnormality of tibia morphology Aplasia of the fingers Fibular aplasia Deviation of finger Carpal bone hypoplasia Aplastic/hypoplastic toenail Abnormality of the radius Aplasia/Hypoplasia of the fibula Talipes equinovalgus Aplasia/Hypoplasia involving the metacarpal bones Absent toe Aplasia of metacarpal bones Deformed tarsal bones 4-5 toe syndactyly Malaligned carpal bone Intellectual disability, severe Polydactyly Toe syndactyly Prominent nose Sloping forehead Anonychia Abnormality of digit Thoracic scoliosis Short middle phalanx of the 5th finger Congenital microcephaly Central hypothyroidism



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