Brachydactyly, and Abnormality of skin pigmentation

Diseases related with Brachydactyly and Abnormality of skin pigmentation

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


Top matches:

Low match AL-RAQAD SYNDROME; ARS


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AL-RAQAD SYNDROME; ARS

Low match SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES


Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Abnormal facial shape
  • Anemia


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES

Low match ADULT SYNDROME


ADULT (Acro-dermo-ungual-lacrimal-tooth) syndrome is a rare ectodermal dysplasia syndrome (see this term) characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia.

ADULT SYNDROME Is also known as acrodermatounguallacrimaltooth syndrome|pigment anomaly-ectrodactyly-hypodontia syndrome|acro-dermato-ungual-lacrimal-tooth syndrome

Related symptoms:

  • Brachydactyly
  • Wide nasal bridge
  • Abnormality of the dentition
  • Syndactyly
  • Midface retrusion


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ADULT SYNDROME

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Other less relevant matches:

Low 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

Low match INSULIN-RESISTANCE SYNDROME TYPE A


Type A insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome and type B insulin resistance syndrome; see these terms) and is characterized by the triad of hyperinsulinemia, acanthosis nigricans (skin lesions associated with insulin resistance), and signs of hyperandrogenism in females without lipodystrophy and who are not overweight.

INSULIN-RESISTANCE SYNDROME TYPE A Is also known as diabetes mellitus, insulin-resistant, with acanthosis nigricans, type a|insulin receptor, defect in, with insulin-resistant diabetes mellitus and acanthosis nigricans|iran, type a

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Brachydactyly
  • Abnormality of the dentition
  • Intellectual disability, mild


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about INSULIN-RESISTANCE SYNDROME TYPE A

Low match TERMINAL OSSEOUS DYSPLASIA-PIGMENTARY DEFECTS SYNDROME


Terminal osseous dysplasia-pigmentary defects syndrome is characterised by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.

TERMINAL OSSEOUS DYSPLASIA-PIGMENTARY DEFECTS SYNDROME Is also known as odpf syndrome|odpd|osseous dysplasia, digital, with facial pigmentary defects and multiple frenula|todpd|terminal osseous dysplasia and pigmentary defects|odpf

Related symptoms:

  • Hypertelorism
  • Cleft palate
  • Ptosis
  • Low-set ears
  • Flexion contracture


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about TERMINAL OSSEOUS DYSPLASIA-PIGMENTARY DEFECTS SYNDROME

Low match PROGRESSIVE OSSEOUS HETEROPLASIA


Progressive osseous heteroplasia (POH) is a rare genetic bone disorder characterized clinically by progressive extraskeletal bone formation presenting in early life with cutaneous ossification, that progressively involves subcutaneous and then subsequently deep connective tissues, including muscle and fascia. POH overlaps with a number of related genetic disorders including Albright hereditary osteodystrophy, pseudohypoparathyroidism (see these terms), and primary osteoma cutis, that share the common features of superficial heterotopic ossification in association with inactivating mutations of GNAS gene (20q13.2-q13.3), coding for guanine nucleotide-binding proteins. POH can, however, be distinguished clinically by the deep and progressive nature of the heterotopic bone formation.

PROGRESSIVE OSSEOUS HETEROPLASIA Is also known as familial ectopic ossification|ectopic ossification, familial|poh|osteoma cutis

Related symptoms:

  • Scoliosis
  • Growth delay
  • Neoplasm
  • Pain
  • Brachydactyly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PROGRESSIVE OSSEOUS HETEROPLASIA

Low 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

Low match INFANTILE SYSTEMIC HYALINOSIS


Infantile systemic hyalinosis (ISH) is a very rare disorder belonging to the heterogeneous group of genetic fibromatoses and is characterized by progressive joint contractures, skin abnormalities, severe chronic pain and widespread deposition of hyaline material in many tissues such as the skin, skeletal muscle, cardiac muscle, gastrointestinal tract, lymph nodes, spleen, thyroid, and adrenal glands.

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Muscular hypotonia
  • Feeding difficulties
  • Brachydactyly


SOURCES: ORPHANET MENDELIAN

More info about INFANTILE SYSTEMIC HYALINOSIS

Low match ACRODYSOSTOSIS


Acrodysostosis (ACRDYS) is a rare primary bone dysplasia characterized by severe brachydactyly, peripheral dysostosis with facial dysostosis, nasal hypoplasia, and developmental delay.

ACRODYSOSTOSIS Is also known as acrodysplasia|arkless-graham syndrome|maroteaux-malamut syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Cryptorchidism


SOURCES: ORPHANET MENDELIAN

More info about ACRODYSOSTOSIS

Top 5 symptoms//phenotypes associated to Brachydactyly and Abnormality of skin pigmentation

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Melanocytic nevus Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
Epicanthus Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Brachydactyly and Abnormality of skin pigmentation. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Thickened skin Midface retrusion Microcephaly Mandibular prognathia Abnormality of the nail Wide nasal bridge Subcutaneous nodule Telecanthus

Rare Symptoms - Less than 30% cases


Hypertrichosis Epidermal acanthosis Skin rash Diabetes mellitus Hyperkeratosis Glaucoma Hypermelanotic macule Cataract Hearing impairment Short stature Abnormality of dental morphology Skin ulcer Cutaneous photosensitivity Generalized hirsutism Abnormal facial shape Macule Scoliosis Micromelia Brachycephaly Cryptorchidism Abnormality of the musculature Short metatarsal Short metacarpal Neoplasm Short toe Global developmental delay Iris coloboma Camptodactyly of finger Osteoporosis Menstrual irregularities Polycystic ovaries Accelerated skeletal maturation Carious teeth Camptodactyly Dry skin Obesity Hyperhidrosis Clinodactyly Low-set ears Short nose Alopecia Depressed nasal bridge Frontal bossing Anteverted nares Severe short stature Osteopenia Abnormality of the dentition Syndactyly Hypopigmentation of the skin Wide intermamillary distance Ectopic calcification Bone pain Sarcoma Narrow mouth Celiac disease Absent speech Ankylosis Calcinosis Constrictive median neuropathy Pseudohypoparathyroidism Numerous nevi Thin upper lip vermilion Ectopic ossification Abnormality of the parathyroid gland Osteoma Osteoma cutis Ectopic ossification in muscle tissue Strabismus Finger syndactyly Hydrocephalus Motor delay Arachnodactyly Osteoarthritis Limitation of joint mobility Hypogonadotrophic hypogonadism Camptodactyly of toe Coloboma Unsteady gait Abnormal cardiac septum morphology Joint laxity Multiple joint contractures Anal stenosis Fibroma Toe clinodactyly Abnormal oral frenulum morphology Mesomelic arm shortening Nevus Mesomelic leg shortening Localized skin lesion Abnormal foot bone ossification Abnormal hand bone ossification Localized osteoporosis Neonatal hypotonia Deeply set eye Pain Scarring Papule Cerebral calcification Hemivertebrae Flat face Open mouth Osteomalacia Abnormality of the gastrointestinal tract Abnormality of the adrenal glands Aplasia/Hypoplasia of the thymus Peripheral neuropathy Hypogonadism Delayed eruption of teeth Hypoplasia of the maxilla Depressed nasal ridge Abnormal form of the vertebral bodies Steatorrhea Abnormality of the metacarpal bones Hypoplasia of the radius Cone-shaped epiphysis Hypoplasia of the ulna Open bite Abnormality of immune system physiology Spinal canal stenosis Epiphyseal stippling Abnormality of the ulna Abnormality of female external genitalia Telangiectasia of the skin Urticaria Vertebral fusion Immunodeficiency Abnormality of the neck Abnormality of the sense of smell Vertebral wedging Palmar pits Plantar pits Failure to thrive Muscular hypotonia Feeding difficulties Macrocephaly Short neck Coarse facial features Increased susceptibility to fractures Joint stiffness Malabsorption Prominent nasal bridge Short palm Recurrent fractures Chronic diarrhea Gingival overgrowth Lymphedema Hyperpigmentation of the skin Recurrent bacterial infections Skeletal dysplasia Malar flattening Microdontia Spotty hypopigmentation Nasolacrimal duct obstruction Toenail dysplasia Fingernail dysplasia Lacrimal duct stenosis Nail pits Lacrimal duct atresia Conical incisor Premature loss of permanent teeth Adermatoglyphia Profound global developmental delay Absent nipple Hypopigmented skin patches Abnormality of cardiovascular system morphology Sparse and thin eyebrow Short distal phalanx of finger Talipes Weight loss Erythema Protruding ear Small for gestational age Corneal opacity Breast hypoplasia Sparse axillary hair Tapered finger Finger clinodactyly Eczema Fine hair Nail dysplasia Sparse scalp hair Inflammatory abnormality of the skin Split hand Thin skin Abnormality of the face Ectodermal dysplasia Hypodontia Conjunctivitis Generalized hypopigmentation Oligodontia Dermal atrophy Generalized hypotonia Anisopoikilocytosis Freckling Hypoplastic nipples Ectrodactyly Alopecia of scalp Split foot Fair hair Pruritus Palmoplantar keratoderma Abnormality of the skeletal system Generalized hyperpigmentation Macroglossia Narrow forehead Type II diabetes mellitus Anemia Insulin resistance Hyperplasia of the maxilla Acanthosis nigricans Sandal gap Hyperinsulinemia Increased number of teeth Insulin-resistant diabetes mellitus Hirsutism Growth hormone excess Ketoacidosis Prolactin excess Macroorchidism Nail dystrophy Generalized hypertrichosis Cleft palate Ptosis Flexion contracture Inability to walk Muscle cramps Delayed puberty Abnormal blistering of the skin Irregular hyperpigmentation Sparse hair Oral cleft High forehead Abnormality of the hair Proptosis Neoplasm of the skin Palmoplantar hyperkeratosis Scaling skin Clinodactyly of the 5th finger Recurrent infections Abnormality of the testis Hypotrichosis Hypergranulosis Generalized hyperkeratosis Diffuse palmoplantar keratoderma Diffuse palmoplantar hyperkeratosis Patchy palmoplantar keratoderma Anal atresia Intellectual disability, mild Talipes equinovarus Toe syndactyly Macrotia Abnormality of the radius



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