Brachydactyly, and Behavioral abnormality

Diseases related with Brachydactyly and Behavioral abnormality

In the following list you will find some of the most common rare diseases related to Brachydactyly and Behavioral abnormality 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 HYPOCHONDROPLASIA


Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints.

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Brachydactyly
  • Macrocephaly
  • Skeletal dysplasia


SOURCES: ORPHANET MENDELIAN

More info about HYPOCHONDROPLASIA

Low match GELEOPHYSIC DYSPLASIA 3; GPHYSD3


Related symptoms:

  • Short stature
  • Abnormal facial shape
  • Depressed nasal bridge
  • Hepatomegaly
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about GELEOPHYSIC DYSPLASIA 3; GPHYSD3

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Other less relevant matches:

Low 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

Low match BARDET-BIEDL SYNDROME 17; BBS17


BBS17 is an autosomal recessive ciliopathy characterized by retinitis pigmentosa, cognitive impairment, obesity, renal dysfunction, and hypogenitalism. Polydactyly, most often postaxial, is also a primary feature of BBS; in BBS17 mesoaxial polydactyly, with fused or Y-shaped metacarpals, is a distinct manifestation (Deffert et al., 2007; Schaefer et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Cognitive impairment
  • Brachydactyly
  • Renal insufficiency
  • Obesity


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 17; BBS17

Low match PHOSPHOGLYCERATE KINASE 1 DEFICIENCY


Phosphoglycerate kinase-1 deficiency is an X-linked recessive condition with a highly variable clinical phenotype that includes hemolytic anemia, myopathy, and neurologic involvement. Patients can express 1, 2, or all 3 of these manifestations (Shirakawa et al., 2006).

PHOSPHOGLYCERATE KINASE 1 DEFICIENCY Is also known as pgk1 deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Ataxia


SOURCES: MESH OMIM MENDELIAN

More info about PHOSPHOGLYCERATE KINASE 1 DEFICIENCY

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

Low match OROFACIODIGITAL SYNDROME XVIII; OFD18


Orofaciodigital syndrome-18 is characterized by short stature, brachymesophalangy, pre- and postaxial polysyndactyly, and stocky femoral necks, as well as oral anomalies and dysmorphic facial features (Thevenon et al., 2016).

OROFACIODIGITAL SYNDROME XVIII; OFD18 Is also known as ofds xviii|oral-facial-digital syndrome, type xviii

Related symptoms:

  • Short stature
  • Abnormal facial shape
  • Brachydactyly
  • Wide nasal bridge
  • Upslanted palpebral fissure


SOURCES: OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME XVIII; OFD18

Low match ALOPECIA-INTELLECTUAL DISABILITY SYNDROME


Alopecia-intellectual deficit syndrome is an extremely rare syndrome described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia.

ALOPECIA-INTELLECTUAL DISABILITY SYNDROME Is also known as perniola-krajewska-carnevale syndrome|amr syndrome|apmr

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALOPECIA-INTELLECTUAL DISABILITY SYNDROME

Top 5 symptoms//phenotypes associated to Brachydactyly and Behavioral abnormality

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Seizures Intellectual disability, severe Autism Polydactyly

Rare Symptoms - Less than 30% cases


Pneumonia Anteverted nares Anxiety Pain Small hand Short foot Delayed speech and language development Obsessive-compulsive behavior Muscular hypotonia Sleep apnea Bulbous nose Postaxial polydactyly Intellectual disability, progressive Wide nasal bridge Strabismus Hallux valgus Hyperlordosis Generalized hypotonia Single transverse palmar crease Scoliosis Renal insufficiency Syndactyly Rod-cone dystrophy Febrile seizures Broad forehead Otitis media Coarse facial features Hypermetropia Severe global developmental delay Severe short stature Small nail Broad-based gait Cerebral cortical atrophy Recurrent infections Abnormality of metabolism/homeostasis Attention deficit hyperactivity disorder Reticulocytosis Wide mouth Myopia Progressive encephalopathy Myoglobinuria Decreased mean corpuscular volume Increased muscle fatiguability Recurrent myoglobinuria Exercise-induced muscle cramps Exercise-induced myoglobinuria Low-set ears Feeding difficulties Fever Autistic behavior Atrial septal defect Vomiting Constipation Posteriorly rotated ears Hyperactivity Gastroesophageal reflux Acute kidney injury Thin upper lip vermilion Low-set, posteriorly rotated ears Recurrent otitis media Upslanted palpebral fissure Leukocytosis Macrotia Square face Small forehead Agenesis of incisor Hearing impairment Growth delay Flexion contracture Intellectual disability, mild Delayed skeletal maturation Alopecia Hyperhidrosis Photophobia Cervical ribs EEG abnormality Ichthyosis Falls Sparse scalp hair Split hand Hypergonadotropic hypogonadism Aplasia/Hypoplasia of the eyebrow Sparse body hair Alopecia universalis Abnormal nasal morphology Abnormality of skeletal morphology Accessory oral frenulum Diastema Cellulitis Short philtrum Periodontitis Mild global developmental delay Echolalia Widow's peak Bronchiolitis Neutrophilia Abnormality of the integument Reduction of neutrophil motility Aphasia Cleft lip Prominent nasal bridge Median cleft lip Genu valgum Short distal phalanx of finger Urinary incontinence Abnormal vertebral morphology Recurrent pneumonia Sandal gap Drooling Preaxial polydactyly Short middle phalanx of finger Short femoral neck Slender long bone Rhabdomyolysis Mental deterioration Emotional lability Mitral regurgitation Long philtrum Respiratory failure Dyspnea Apnea Joint stiffness Thick vermilion border Full cheeks Round face Limb undergrowth Thickened skin Depressed nasal bridge Hoarse voice Epiphyseal dysplasia Pulmonary artery stenosis Subglottic stenosis Cryptorchidism Retrognathia Aggressive behavior Toe syndactyly Prominent nose Sloping forehead Hepatomegaly Childhood onset short-limb short stature Abnormality of digit Skeletal dysplasia Ptosis Agenesis of corpus callosum Craniosynostosis Dental malocclusion Low anterior hairline Abnormality of the outer ear Partial agenesis of the corpus callosum Anterior plagiocephaly Macrocephaly Joint hyperflexibility Abnormality of femur morphology Micromelia Osteoarthritis Abnormality of the metaphysis Abnormal form of the vertebral bodies Bowing of the long bones Short toe Abnormality of pelvic girdle bone morphology Genu varum Spinal canal stenosis Abnormality of the elbow Anonychia Thoracic scoliosis Hemiplegia Myalgia Anemia High palate Fatigue Myopathy Splenomegaly Encephalopathy Visual loss Jaundice Hepatosplenomegaly Paralysis Y-shaped metacarpals Muscular dystrophy Retinal dystrophy Hemolytic anemia Muscle cramps Migraine Tetraparesis Exercise intolerance Hyperbilirubinemia Purpura Spastic tetraparesis Ataxia Mesoaxial polydactyly Short middle phalanx of the 5th finger Retinal degeneration Congenital microcephaly 4-5 toe syndactyly Single interphalangeal crease of fifth finger Absent fourth finger distal interphalangeal crease Cognitive impairment Obesity Hypogonadism Micropenis Stage 5 chronic kidney disease Renal cyst Bilateral postaxial polydactyly Situs inversus totalis Cone/cone-rod dystrophy Anosmia Polydipsia Polyuria External genital hypoplasia Foot polydactyly Postaxial foot polydactyly Undetectable electroretinogram Hyposmia Short corpus callosum



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